Mdfptisrsp sgppamdleg prdilvpsed ltpdsqwdpm pggpgslsrm eldesslqel



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Name: Amyloid beta A4 precursor protein-binding family A member 3 (Neuron-specific X11L2 protein) (Neuronal Munc18-1-interacting protein 3) (Mint-3) (Adapter protein X11gamma).

Accession: O96018

Origin:

mdfptisrsp sgppamdleg prdilvpsed ltpdsqwdpm pggpgslsrm eldesslqel



vqqfealpgd lvgpspggap cplhiatghg lasqeiadah gllsaeagrd dllgllhcee

cppsqtgpee plepaprllq ppedpdedsd spewvegasa eqegsrssss spepwletvp

lvtpeeppag aqspetlasy papqevpgpc dhedlldgvi fgarylgstq lvsernppts

trmaqaream drvkapdget qpmtevdlfv stkrikvlta dsqeammdha lhtisytadi

gcvlvlmarr rlarrpapqd hgrrlykmlc hvfyaedaql iaqaigqafa aaysqflres

gidpsqvgvh pspgachlhn gdldhfsnsd ncrevhlekr rgeglgvalv esgwgsllpt

avianllhgg paersgalsi gdrltaingt slvglplaac qaavretksq tsvtlsivhc

481 ppvttaiihr phareqlgfc vedgiicsll rggiaerggi rvghriiein gqsvvatpha

541 riiellteay gevhiktmpa atyrlltgqe qpvyl

Variants:

I527F causes amyloid disease

Name: Cystatin C precursor (Neuroendocrine basic polypeptide) (Gamma-trace) (Post-gamma-globulin).

Accession: P01034

Origin:


magplrapll llailavala vspaagsspg kpprlvggpm dasveeegvr raldfavgey

nkasndmyhs ralqvvrark qivagvnyfl dvelgrttct ktqpnldncp fhdqphlkrk

afcsfqiyav pwqgtmtlsk stcqda
Variants:

A25T cause AD

L94Q cause AD

W132S cause AD


Name: Lysozyme C precursor (1,4-beta-N-acetylmuramidase C).

Accession: P61626

Origin:

mkalivlglv llsvtvqgkv fercelartl krlgmdgyrg islanwmcla kwesgyntra



tnynagdrst dygifqinsr ywcndgktpg avnachlscs allqdniada vacakrvvrd

pqgirawvaw rnrcqnrdvr qyvqgcgv


Variants:

V10A causes AD

I41M causes AD

I74T causes AD

D85H causes AD

T88N causes AD

V111A cause AD

I124V causes AD

V128A causes AD

N136D causes AD


Name: Presenilin 2 (PS-2) (ALG-3) (Alzheimer disease 4 homolog).

Accession: Q61144.

Origin:

mlafmasdse eevcdertsl msaesptsrs cqegrpgped gestaqwrtq eseedceedp



dryacsgapg rpsgleeelt lkygakrvim lfvpvtlcmi vvvatiksvr fytekngqli

ytpftedtps vgqrllnsvl ntlimisviv vmtiflvvly kyrcykfihg wlimsslmll

flftyiylge vlktynvamd yptlflavwn fgavgmvcih wkgplvlqqa ylivisalma

lvfikylpew sawvilgais vydlvavlcp kgplrmlvet aqernepifp aliyssamvw

tvgmakldps sqgalqlpyd pemeedsyds fgepsypeaf eaplpgypge eleeeeergv

klglgdfify svlvgkaaat gngdwnttla cfiailiglc ltllllavfk kalpalpisi

tfglifyfst dnlvrpfmdt lashqlyi
Variants:

D40G causes AD

R87H causes AD

V226A causes AD


Name: Gamma-secretase subunit APH-1A (APH-1a) (Aph-1alpha) (Presenilin stabilization factor) (CGI-78) (UNQ579/PRO1141).

Accession: Q96BI3

Origin:

mgaavffgct fvafgpafal flitvagdpl rviilvagaf fwlvslllas vvwfilvhvt



drsdarlqyg llifgaavsv llqevfrfay ykllkkadeg laslsedgrs pisirqmayv

sglsfgiisg vfsvinilad algpgvvgih gdspyyflts afltaaiill htfwgvvffd

acerrrywal glvvgshllt sgltflnpwy easllpiyav tvsmglwafi taggslrsiq

rsllcrrqed srvmvysalr ipped


Variants:

L236I causes AD


Name: Tumor-associated hydroquinone oxidase (tNOX) (Cytosolic ovarian carcinoma antigen 1) (APK1 antigen) [Includes: Hydroquinone [NADH] oxidase ; Protein disulfide-thiol oxidoreductase ].

Accession: Q16206

Origin:

mqrdfrwlwv yeigyaadns rtlnvdstam tlpmsdptaw atamnnlgma plgiagqpil



pdfdpalgmm tgippitpmm pglgivpppi ppdmpvvkei ihcksctlfp pnpnlpppat

rerppgcktv fvgglpengt eqiivevfeq cgeiiairks kknfchirfa eeymvdkaly

lsgyrirlgs stdkkdtgrl hvdfaqardd lyeweckqrm lareerhrrr meeerlrpps

pppvvhysdh ecsivaeklk ddskfseavq tlltwierge vnrrsannfy smiqsanshv

rrlvnekaah ekdmeeakek fkqalsgili qaeqivavyh saskqkawdh ftkaqrknis

vwckqaeeir nihndelmgi rreeememsd deieemtetk eteesalvsq aealkeends

lrwqldayrn evellkqeqg kvhreddpnk eqqlkllqqa lqgmqqhllk vqeeykkkea

eleklkddkl qvekmlenlk ekescasrlc asnqdseypl ektmnsspik sereallvgi

istflhvhpf gasieyicsy lhrldnkict sdveclmgrl qhtfkqemtg vgaslekrwk

fcgfeglklt


Variants:

R123G causes AD

E311G causes AD

S326V causes AD

I328V causes AD

F332A causes AD


Name: Fibulin-1 precursor.

Accession: P23142.

Origin:

meraapsrrv plpllllggl allaagvdad vlleaccadg hrmathqkdc slpyateske



crmvqeqcch sqleelhcat gislaneqdr catphgdnas leatfvkrcc hccllgraaq

aqgqsceysl mvgyqcgqvf raccvksqet gdldvgglqe tdkiieveee qedpylndrc

rgggpckqqc rdtgdevvcs cfvgyqllsd gvscedvnec itgshscrlg escintvgsf

rcqrdsscgt gyeltednsc kdidecesgi hnclpdficq ntlgsfrcrp klqcksgfiq

dalgncidin eclsisapcp ightcinteg sytcqknvpn cgrgyhlnee gtrcvdvdec

appaepcgkg hrcvnspgsf rcecktgyyf dgisrmcvdv necqrypgrl cghkcentlg

sylcscsvgf rlsvdgrsce dinecssspc sqecanvygs yqcycrrgyq lsdvdgvtce

didecalptg ghicsyrcin ipgsfqcscp ssgyrlapng rncqdidecv tgihncsine

tcfniqggfr clafecpeny rrsaatlqqe ktdtvrciks crpndvtcvf dpvhtishtv

islptfreft rpeeiiflra itpphpasqa niifditegn lrdsfdiikr ymdgmtvgvv

rqvrpivgpf havlklemny vvggvvshrn vvnvrifvse ywf
Variants:

C36S causes tumor formation

R141Q causes tumor formation

R521S causes tumor formation

G548A causes tumor formation

R695H causes tumor formation


Name: Amyloid beta A4 protein precursor (APP) (ABPP) (Alzheimer's disease amyloid protein homolog) (Amyloidogenic glycoprotein) (AG) [Contains: Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (APP-C99); Beta-amyloid protein 42 (Beta-APP42); Beta-amyloid protein 40 (Beta-APP40); C83; P3(42); P3(40); Gamma-CTF(59) (Gamma-secretase C-terminal fragment 59) (Amyloid intracellular domain 59) (AID(59)) (APP-C59); Gamma-CTF(57) (Gamma-secretase C-terminal fragment 57) (Amyloid intracellular domain 57) (AID(57)) (APP-C57); Gamma-CTF(50) (Gamma-secretase C-terminal fragment 50) (Amyloid intracellular domain 50)

Accession: P12023

Origin:

mlpslallll aawtvralev ptdgnaglla epqiamfcgk lnmhmnvqng kwesdpsgtk



tcigtkegil qycqevypel qitnvveanq pvtiqnwckr grkqckthth ivipyrclvg

efvsdallvp dkckflhqer mdvcethlhw htvaketcse kstnlhdygm llpcgidkfr

gvefvccpla eesdsvdsad aeeddsdvww ggadtdyadg gedkvvevae eeevadveee

eadddedved gdeveeeaee pyeeatertt stattttttt esveevvrev cseqaetgpc

ramisrwyfd vtegkcvpff yggcggnrnn fdteeycmav cgsvstqsll kttseplpqd

pdklpttaas tpdavdkyle tpgdenehah fqkakerlea khrermsqvm reweeaerqa

knlpkadkka viqhfqekve sleqeaaner qqlvethmar veamlndrrr lalenyital

qavpprphhv fnmlkkyvra eqkdrqhtlk hfehvrmvdp kkaaqirsqv mthlrviyer

mnqslsllyn vpavaeeiqd evdellqkeq nysddvlanm iseprisygn dalmpsltet

kttvellpvn gefslddlqp whpfgvdsvp antenevepv darpaadrgl ttrpgsgltn

ikteeisevk mdaefghdsg fevrhqklvf faedvgsnkg aiiglmvggv viatvivitl

vmlkkkqyts ihhgvvevda avtpeerhls kmqqngyenp tykffeqmqn


Variants:

G221S causes AD

V375A causes AD
Name: C-jun-amino-terminal kinase interacting protein 1 (JNK-interacting protein 1) (JIP-1) (JNK MAP kinase scaffold protein 1) (Islet-brain-1) (IB-1) (Mitogen-activated protein kinase 8-interacting protein 1).

Accession: Q9UQF2.

Origin:

1 maeresgglg ggaasppaas pflglhiasp pnfrlthdis leefededls eitdecgisl



61 qckdtlslrp pragllsagg ggagsrlqae mlqmdlidat gdtpgaedde edddeeraar

121 rpgagppkae sgqepasrgq gqsqgqsqgp gsgdtyrpkr pttlnlfpqv prsqdtlnnn

181 slgkkhswqd rvsrsssplk tgeqtppheh iclsdelppq sgpapttdrg tstdspcrrs

241 tatqmappgg ppaappggrg hshrdrihyq advrleatee iyltpvqrpp daaeptsafl

301 pptesrmsvs sdpdpaayps tagrphpsis eeeegfdcls speraeppgg gwrgslgepp

361 pppraslssd tsalsydsvk ytlvvdehaq lelvslrpcf gdysdesdsa tvydncasvs

421 spyesaigee yeeaprpqpp aclsedstpd epdvhfskkf lnvfmsgrsr sssaesfglf

481 sciingeeqe qthraifrfv prhedelele vddpllvelq aedywyeayn mrtgargvfp

541 ayyaievtke pehmaalakn sdwvdqfrvk flgsvqvpyh kgndvlcaam qkiattrrlt

601 vhfnppsscv leisvrgvki gvkaddsqea kgnkcshffq lknisfcgyh pknnkyfgfi

661 tkhpadhrfa chvfvsedst kalaesvgra fqqfykqfve ytcptediyl e
Variants:

S59N causes non-insulin-dependent diabetes mellitus (NIDDM)


Name: Alpha-synuclein (Non-A beta component of AD amyloid) (Non-A4 component of amyloid precursor) (NACP).

Accession: O55042.

Origin:

1 mdvfmkglsk akegvvaaae ktkqgvaeaa gktkegvlyv gsktkegvvh gvttvaektk



61 eqvtnvggav vtgvtavaqk tvegagniaa atgfvkkdqm gkgeegypqe giledmpvdp

121 gseayempse egyqdyepea


Variants:

K58T causes non-Abeta component of Alzheimer's disease amyloid precursor protein


Name: Microtubule-associated protein tau (Neurofibrillary tangle protein) (Paired helical filament-tau) (PHF-tau).

Accession: P10636.

Origin:

1 maeprqefev medhagtygl gdrkdqggyt mhqdqegdtd aglkesplqt ptedgseepg



61 setsdakstp taedvtaplv degapgkqaa aqphteipeg ttaeeagigd tpsledeaag

121 hvtqepesgk vvqegflrep gppglshqlm sgmpgapllp egpreatrqp sgtgpedteg

181 grhapellkh qllgdlhqeg pplkgaggke rpgskeevde drdvdesspq dsppskaspa

241 qdgrppqtaa reatsipgfp aegaiplpvd flskvsteip asepdgpsvg rakgqdaple

301 ftfhveitpn vqkeqahsee hlgraafpga pgegpeargp slgedtkead lpepsekqpa

361 aaprgkpvsr vpqlkarmvs kskdgtgsdd kkaktstrss aktlknrpcl spklptpgss

421 dpliqpsspa vcpeppsspk hvssvtsrtg ssgakemklk gadgktkiat prgaappgqk

481 gqanatripa ktppapktpp ssgeppksgd rsgysspgsp gtpgsrsrtp slptpptrep

541 kkvavvrtpp kspssaksrl qtapvpmpdl knvkskigst enlkhqpggg kvqiinkkld

601 lsnvqskcgs kdnikhvpgg gsvqivykpv dlskvtskcg slgnihhkpg ggqvevksek

661 ldfkdrvqsk igsldnithv pgggnkkiet hkltfrenak aktdhgaeiv ykspvvsgdt

721 sprhlsnvss tgsidmvdsp qlatladevs aslakqgl


Variants:

D285N FTDP17

V289 causes suprnuclaer palsy

H441Y FTDP17

S447P FTDP17

K574T causes reduced ability to promote micortuble assemble

G589V FTDP17

N596K FTDP17

P618L causes reduced ability to promote microtuble assemble

S622N causes minimal parkinsonism

V654M causes ultrastructural and biochemical characteristics indistinguishable from Alzheimer's disease

G706R causes dementia resembling Pick’s disease

R723W causes accelerated aggregation of Tau into filaments
Name: Beta secretase 2 precursor (Beta-site APP-cleaving enzyme 2) (Aspartyl protease 1) (Asp 1) (ASP1) (Membrane-associated aspartic protease 1) (Memapsin-1) (Down region aspartic protease) (UNQ418/PRO852).

Accession: Q9Y5Z0

Origin:

mgalaralll pllaqwllra apelapapft lplrvaaatn rvvaptpgpg tpaerhadgl



alalepalas pagaanflam vdnlqgdsgr gyylemligt ppqklqilvd tgssnfavag

tphsyidtyf dtersstyrs kgfdvtvkyt qgswtgfvge dlvtipkgfn tsflvniati

fesenfflpg ikwngilgla yatlakpsss letffdslvt qanipnvfsm qmcgaglpva

gsgtnggslv lggiepslyk gdiwytpike ewyyqieilk leiggqslnl dcreynadka

ivdsgttllr lpqkvfdavv eavaraslip efsdgfwtgs qlacwtnset pwsyfpkisi

ylrdenssrs fritilpqly iqpmmgagln yecyrfgisp stnalvigat vmegfyvifd

raqkrvgfaa spcaeiagaa vseisgpfst edvasncvpa qslsepilwi vsyalmsvcg

aillvlivll llpfrcqrrp rdpevvndes slvrhrwk


Variants:

A36T causes unknown


Name: Transforming growth factor-beta induced protein IG-H3 precursor (Beta IG-H3) (Kerato-epithelin) (RGD-containing collagen associated protein) (RGD-CAP).

Accession: Q15582.

Origin:

malfvrllal alalalgpaa tlagpakspy qlvlqhsrlr grqhgpnvca vqkvigtnrk



yftnckqwyq rkicgkstvi syeccpgyek vpgekgcpaa lplsnlyetl gvvgstttql

ytdrteklrp emegpgsfti fapsneawas lpaevldslv snvniellna lryhmvgrrv

ltdelkhgmt ltsmyqnsni qihhypngiv tvncarllka dhhatngvvh lidkvistit

nniqqiieie dtfetlraav aasglntmle gngqytllap tneafekips etlnrilgdp

ealrdllnnh ilksamcaea ivaglsvetl egttlevgcs gdmltingka iisnkdilat

ngvihyidel lipdsaktlf elaaesdvst aidlfrqagl gnhlsgserl tllaplnsvf

kdgtppidah trnllrnhii kdqlaskyly hgqtletlgg kklrvfvyrn slcienscia

ahdkrgrygt lftmdrvltp pmgtvmdvlk gdnrfsmlva aiqsagltet lnregvytvf

aptneafral pprersrllg dakelanilk yhigdeilvs ggigalvrlk slqgdklevs

lknnvvsvnk epvaepdima tngvvhvitn dlqppanrpq ergdeladsa leifkqasaf

srasqrsvrl apvyqkller mkh
Variants: corneal dystrophy lattice type I (CDL1)

R124C in CDL1

R124H in ACD

R124L in CDRB

R124S in CDGG1 late onset

I200F


P501Tin CDL3a

L518P in CDL1

L527R in CDL1 late onset

T538R in CDL1 delayed onset

N544S in CDL

A546T in CDL3A

R555Q in CDTB

R555W in CDGG1

N622H in asymmetric lattice corneal dystrophy

G623H in CDL1

H626P in CDL1

H626R in CDL1

V631D in CDL1
Name: Serum amyloid P-component precursor (SAP) (9.5S alpha-1-glycoprotein).

Accession: P02743

Origin:

mnkpllwisv ltslleafah tdlsgkvfvf presvtdhvn litplekplq nftlcfrays



dlsrayslfs yntqgrdnel lvykervgey slyigrhkvt skviekfpap vhicvswess

sgiaefwing tplvkkglrq gyfveaqpki vlgqeqdgyg gkfdrsqsfv geigdlymwd

svlppenils ayqgtplpan ildwqalnye irgyviikpl vwv
Variants:

S101P causes AD

L152G causes AD

E155G causes AD

S158G causes AD
Name: Alpha-synuclein (Non-A beta component of AD amyloid) (Non-A4 component of amyloid precursor) (NACP).

Accession: P37840

Origin:

mdvfmkglsk akegvvaaae ktkqgvaeaa gktkegvlyv gsktkegvvh gvatvaektk



eqvtnvggav vtgvtavaqk tvegagsiaa atgfvkkdql gkneegapqe giledmpvdp

dneayempse egyqdyepea


Variants:

A30P in PARK1

A53T in PARK1
Name: 3-hydroxyacyl-CoA dehydrogenase type II (Type II HADH) (Endoplasmic reticulum-associated amyloid beta-peptide binding protein) (Short-chain type dehydrogenase/reductase XH98G2).

Accession: Q99714

Origin:

maaacrsvkg lvavitggas glglataerl vgqgasavll dlpnsggeaq akklgnncvf



apadvtsekd vqtalalakg kfgrvdvavn cagiavaskt ynlkkgqtht ledfqrvldv

nlmgtfnvic lvagemgqne pdqggqrgvi intasvaafe gqvgqaaysa skggivgmtl

piardlapig irvmtiapgl fgtplltslp ekvcnflasq vpfpsrlgdp aeyahlvqai

ienpflngev irldgairmq p


Variants:

L122V in MHBD (2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency)

R130C in MHBD

Name: Transthyretin precursor (Prealbumin) (TBPA) (TTR) (ATTR).

Accession: P02766

Origin:


mashrllllc laglvfvsea gptgtgeskc plmvkvldav rgspainvav hvfrkaaddt

wepfasgkts esgelhgltt eeefvegiyk veidtksywk algispfheh aevvftands

gprrytiaal lspysystta vvtnpke
Variants:

G26S in amyloidosis

C30R in amyloidosis

D38E in amyloidosis

D38G in amyloidosis

Y40I in amyloidosis

R41P

P44S in amyloidosis



V48M in amyloidosis in amyloidosis

V50A in amyloidosis

V50L in amyloidosis

V50M in amyloidosis most frequent mutation

F53I in amyloidosis

F53L in amyloidosis

A56P in amyloidosis

E62G in amyloidosis

A65D in amyloidosis

A65T in amyloidosis

G67A in amyloidosis

G67R in amyloidosis

G67V in amyloidosis

T69A in amyloidosis

S70I in amyloidosis

S72P in amyloidosis

E74G in amyloidosis

L75P in amyloidosis

L78H

L78R in amyloidosis



T79K in amyloidosis

T80A in amyloidosis

E81K in amyloidosis

T84L in amyloidosis

I88L in amlyoid cardiomyopathy

Y89H in amyloidosis VII

K90N in amyloidosis

V91A in amyloidosis

I93V in amyloidosis

D94H


S97Y in amyloidosis

I104N in vitrous amyloid

I104S in amyloidosis

E109K in amyloidosis

E109Q in amyloidosis

H110N


A111S in amyloidosis

A117G in amyloidosis

G121S

P122R


R124C

I127V in amyloidosis

A129T in hperthyroxinemia

L131M in amyloidosis

Y134C in amyloidosis

Y134H in amyloidosis

Y136S in amyloidosis

Y136V


T139M in Chicago variant

V142I in a disorder that resembles senile systemic amyloidosis


Name: Major prion protein precursor (PrP) (PrP27-30) (PrP33-35C) (ASCR) (CD230 antigen).

Accession: P04156

Origin:

1 manlgcwmlv lfvatwsdlg lckkrpkpgg wntggsrypg qgspggnryp pqggggwgqp



61 hgggwgqphg ggwgqphggg wgqphgggwg qgggthsqwn kpskpktnmk hmagaaaaga

121 vvgglggyml gsamsrpiih fgsdyedryy renmhrypnq vyyrpmdeys nqnnfvhdcv

181 nitikqhtvt tttkgenfte tdvkmmervv eqmcitqyer esqayyqrgs smvlfssppv

241 illisflifl ivg


Variants:

P102L in GSD and early onset dementia

P105L in GSD

A117V linked to development of dementing Derstmam-Straussler disease

M129V polymorphism

G131V in GSD

N171S in schizuaffective

D178N in FFI and CJD

V180I in CJD

T183S in familial spongiform encephalopathy

M187R in GSD

T188K in early onset dementia

T188R

E196K in CJD



R198S in GSD atypical form with neurofibrillary tangles

E200K in CJD

D202N in GSD

V203I in CJD

R208H in CJD

V210I in CJD

E211Q in CJD

Q212P in GSD

Q217R in GSD with neurofibrillary tangles

E219K


M232R in CJD

P238S


Name: Gelsolin precursor, plasma (Actin-depolymerizing factor) (ADF) (Brevin) (AGEL).

Accession: P06396.

Origin:

1 maphrpapal lcalslalca lslpvraata srgasqagap qgrvpearpn smvvehpefl



61 kagkepglqi wrvekfdlvp vptnlygdff tgdayvilkt vqlrngnlqy dlhywlgnec

121 sqdesgaaai ftvqlddyln gravqhrevq gfesatflgy fksglkykkg gvasgfkhvv

181 pnevvvqrlf qvkgrrvvra tevpvswesf nngdcfildl gnnihqwcgs nsnryerlka

241 tqvskgirdn ersgrarvhv seegtepeam lqvlgpkpal pagtedtake daanrklakl

301 ykvsngagtm svslvadenp faqgalksed cfildhgkdg kifvwkgkqa nteerkaalk

361 tasdfitkmd ypkqtqvsvl peggetplfk qffknwrdpd qtdglglsyl sshianverv

421 pfdaatlhts tamaaqhgmd ddgtgqkqiw riegsnkvpv dpatygqfyg gdsyiilyny

481 rhggrqgqii ynwqgaqstq devaasailt aqldeelggt pvqsrvvqgk epahlmslfg

541 gkpmiiykgg tsreggqtap astrlfqvra nsagatrave vlpkagalns ndafvlktps

601 aaylwvgtga seaektgaqe llrvlraqpv qvaegsepdg fwealggkaa yrtsprlkdk

661 kmdahpprlf acsnkigrfv ieevpgelmq edlatddvml ldtwdqvfvw vgkdsqeeek

721 tealtsakry ietdpanrdr rtpitvvkqg feppsfvgwf lgwdddywsv dpldramael

781 aa
Variants:

D214N in FAF (familial amyloidosis finnish type)

D214Y in FAF
Name: Apolipoprotein A-I precursor (Apo-AI).

Accession: P02647

Origin:

1 mkaavltlav lfltgsqarh fwqqdeppqs pwdrvkdlat vyvdvlkdsg rdyvsqfegs



61 algkqlnlkl ldnwdsvtst fsklreqlgp vtqefwdnle keteglrqem skdleevkak

121 vqpylddfqk kwqeemelyr qkveplrael qegarqklhe lqeklsplge emrdrarahv

181 dalrthlapy sdelrqrlaa rlealkengg arlaeyhaka tehlstlsek akpaledlrq

241 gllpvlesfk vsflsaleey tkklntq


Variants:

P27H IN Munster 3-C

P27R causes human apolipoprotein A-I variant

P28R in Munster 3-B

R34L causes human apolipoprotein A-I variant

G50R in amyloid fibrils from patients with polyneuropathic amyloidosis

L84P in systemic mon-neuropathic amyloidosis

T92I causes human apolipoprotein A-I variant

D113E causes human apolipoprotein A-I variant

A119D causes human apolipoprotein A-I variant

D126H causes human apolipoprotein A-I variant

D127N in Munster 3-A

K131M causes human apolipoprotein A-I variant

W132R causes human apolipoprotein A-I variant

E134K causes human apolipoprotein A-I variant

R160K causes human apolipoprotein A-I variant

E163G causes human apolipoprotein A-I variant

P167R causes human apolipoprotein A-I variant

L168R causes human apolipoprotein A-I variant

E171V causes human apolipoprotein A-I variant

R184P causes human apolipoprotein A-I variant

P189R causes human apolipoprotein A-I variant

R197C associated with decreased HDL levels

E222Kin Munster-4


Name: Serum amyloid A protein precursor (SAA) [Contains: Amyloid protein A (Amyloid fibril protein AA)].

Accession: P02735

Origin:

1 mklltglvfc slvlgvssrs ffsflgeafd gardmwrays dmreanyigs dkyfhargny



61 daakrgpggv waaeaisdar eniqrffghg aedsladqaa newgrsgkdp nhfrpaglpe

121 ky
Variants: All cause secondary amyloidosis

G15S

V70A in 2-alphs, 2-beta, and 1-gamma



A75V in 2-alpha, 2-beta and 1-beta

FF86..87LT in 2-alpha and 2-beta

H89R in 2-beta

G90D in 1-beta

E102K in 2-alpha and 2-beta

K108 in 2-alpha and 2-beta


Name: Serum amyloid A protein (SAA) [Contains: Amyloid protein A (Amyloid fibril protein AA)].

Accession: P19857

Origin:

1 llsflgeaar gtwdmirayn dmreanyiga dkyfhargny daakrgpgga waakvisdar



61 enfqrftdrf sfggsgrgae dsradqaane wgrsgkdpnh frphglpdky
Variants: precursor of amyloid protein A, which is formed by the removal of residues from the C-terminal end.

I16L


K44Q

A59G


G78A

Name: Serum amyloid A protein precursor (SAA).

Accession: P02740

Origin:


1 mrlcicfvll avivcasadn pftrggrfvl daaggawdml rayrdmrean higadkyfha

61 rgnydaarrg pggawaarvi sdarenwqgg vsgrgaedtr adqeanawgr nggdpnryrp

121 pglpsky
Variants:

G89S in allele A

A107V in allele A
Name: Serum amyloid A protein precursor (SAA) [Contains: Amyloid protein A (Amyloid fibril protein AA)].

Accession: P19708.

Origin:

1 mklfpgllfc slvlgvsgqw ysfvseaaqg awdmwraysd mreanyknsd kyfhargnyd



61 aaqrgpggaw aakvisdare nsqritdllr fgdsghgaed skadqaanew grsgkdpnhf

121 rpaglpdky


Variants:

S25G causes secondary amyloidosis

W35C causes secondary amyloidosis

LLR88..90RLK causes secondary amyloidosis


Name: Serum amyloid A-2 protein precursor [Contains: Amyloid protein A (Amyloid fibril protein AA)].

Accession: P02739

Origin:

1 mklftglifc slvlgvssqw ysfigeavqg awdmyraysd mreanyknsd kyfhargnyd



61 aaqrgpggaw aakvisdare rsqrvtdlfk ygdsghgved skadqaanew grsgkdpnhf

121 rpsglpdky


Variants:

I24F causes secondary amyloidosis

Name: Serum amyloid A-2 protein precursor [Contains: Amyloid protein A (Amyloid fibril protein AA)].

Accession: P05367

Origin:

1 mklltslvfc slllgvchgg ffsfigeafq gagdmwrayt dmkeagwkdg dkyfhargny



61 daaqrgpggv waaekisdar esfqeffgrg hedtmadqea nrhgrsgkdp nyyrppglpa

121 ky
Variants:

A120D in strain SJL/J
Name: Islet amyloid polypeptide precursor (Diabetes-associated peptide) (DAP) (Amylin) (Insulinoma amyloid peptide).

Accession: P10997

Origin:

1 mgilklqvfl ivlsvalnhl katpieshqv ekrkcntatc atqrlanflv hssnnfgail



61 sstnvgsnty gkrnavevlk replnylpl
Variants: IAPP is the peptide subunit of amyloid found in pancreatic islets of type 2 diabetic patients and in insulinomas

S58G
Name: 24-dehydrocholesterol reductase precursor (3-beta-hydroxysterol delta-24-reductase) (Seladin-1) (Diminuto/dwarf1 homolog).

Accession: Q15392

Origin:


1 mepavslavc allfllwvrl kglefvlihq rwvfvclfll plslifdiyy yvrawvvfkl

61 ssaprlheqr vrdiqkqvre wkeqgsktfm ctgrpgwltv slrvgkykkt hkniminlmd

121 ilevdtkkqi vrveplvtmg qvtalltsig wtlpvlpeld dltvgglimg tgiessshky

181 glfqhictay elvladgsfv rctpsensdl fyavpwscgt lgflvaaeir iipakkyvkl

241 rfepvrglea icakfthesq rqenhfvegl lysldeavim tgvmtdeaep sklnsignyy

301 kpwffkhven ylktnregle yiplrhyyhr htrsifwelq diipfgnnpi frylfgwmvp

361 pkisllkltq getlrklyeq hhvvqdmlvp mkclqqalht fqndihvypi wlcpfilpsq

421 pglvhpkgne aelyidigay geprvkhfea rscmrqlekf vrsvhgfqml yadcymnree

481 fwemfdgsly hklreklgcq dafpevydki ckaarh
Variants:

E191K in desmosterolosis

N294T in desmosterolosis

K306N in desmosterolosis

Y471S in desmosterolosis

Name: Serum amyloid P-component precursor (SAP).

Accession: P12246

Origin:


1 mdklllwmfv ftsllseafc qtdlkrkvfv fpresetdhv kliphlekpl qnftlcfrty

61 sdlsrsqslf sysvkgrdne lliykekvge yslyigqskv tvrgmeeyls pvhlcttwes

121 ssgivefwvn gkpwvkkslq reytvkapps ivlgqeqdny gggfqrsqsf vgefsdlymw

181 dyvltpqdil fvyrdspvnp nilnwqalny eingyvvirp rvwd


Conflicts: SAP is a precursor of amyloid component P which is found in basement membrane and associated with amyloid deposits.

I151V


G154R

Name: Major prion protein precursor (PrP) (PrP27-30) (PrP33-35C).

Accession: P40258

Origin:


1 manlgcwmlv lfvatwsdlg lckkrpkpgg wntggsrypg qgspggnryp pqgggwgqph

61 gggwgqphgg gwgqphgggw gqphgggwgq phgggwgqgg gthnqwnkps kpktnmkhma

121 gaaaagavvg glggymlgsa msrplihfgn dyedryyren myrypsqvyy rpvdqysnqn

181 nfvhdcvnvt ikqhtvtttt kgenftetdv kmmervveqm citqyekesq ayyqrgssmv

241 lfssppvill isfliflivg
Variants: PrP is found in high quantity in the brain of humans and animals infected with degenerative neurological diseases such as kuru, Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler syndrome (GSS), scrapie, bovine spongiform encephalopathy (BSE), transmissible mink encephalopathy (TME), etc.
C6Y

R171K
Name: Tumor-associated calcium signal transducer 2 precursor (Pancreatic carcinoma marker protein GA733-1) (Cell surface glycoprotein Trop-2).

Accession: P09758

Origin:


1 margpglapp plrlpllllv laavtghtaa qdnctcptnk mtvcspdgpg grcqcralgs

61 gmavdcstlt skclllkarm sapknartlv rpsehalvdn dglydpdcdp egrfkarqcn

121 qtsvcwcvns vgvrrtdkgd lslrcddlvr thhilidlrh rptagafnhs dldaelrrlf

181 reryrlhpkf vaavhyeqpt iqielrqnts qkaagevdig daayyferdi kgeslfqgrg

241 gldlrvrgep lqvertliyy ldeippkfsm krltagliav ivvvvvalva gmavlvitnr

301 rksgkykkve ikelgelrke psl


Variants: GDLD is an autosomal recessive disorder characterized by grayish corneal amyloid deposits that cause severe visual impairment.

D173A causes gelatinous droplike corneal dystrophy

E216D

Name: Serum amyloid A-2 protein precursor



Accession: P22000.

Origin:


1 mkllsglllc slvlgvsgqg wfsfigeavr gagdmwrays dmreanyina dkyfhargny

61 daaqrgpggv waakvisdvr edlqrlmghg aedsmadqaa newgrsgkdp nhfrpkglpd

121 ky
Variants:

A96D causes secondary amyloidosis

Name: Serum amyloid P-component precursor (SAP).

Accession: P23680

Origin:

1 mdklllwmsv ftsllseafa qtdlnqkvfv fpresetdyv klipwlekpl qnftlcfray



61 sdlsrsqslf sysvnsrdne lliykdkvgq yslyignskv tvrgleefps pihfctswes

121 ssgiaefwvn gkpwvkkglq kgytvkssps ivlgqeqdty gggfdktqsf vgeiadlymw

181 dsvltpenih svdrgfppnp nildwralny eingyvvikp rmwdnkss
Variants: SAP is a precursor of amyloid component P which is found in the basement membrane and associated with amyloid deposits.

D86A


VG88.89LE
Name: Presenilin 2 (PS-2) (STM-2) (E5-1) (AD3LP) (AD5).

Assession: P49810

Origin:
1 mltfmasdse eevcdertsl msaesptprs cqegrqgped gentaqwrsq eneedgeedp

61 dryvcsgvpg rppgleeelt lkygakhvim lfvpvtlcmi vvvatiksvr fytekngqli

121 ytpftedtps vgqrllnsvl ntlimisviv vmtiflvvly kyrcykfihg wlimsslmll

181 flftyiylge vlktynvamd yptllltvwn fgavgmvcih wkgplvlqqa ylimisalma

241 lvfikylpew sawvilgais vydlvavlcp kgplrmlvet aqernepifp aliyssamvw

301 tvgmakldps sqgalqlpyd pemeedsyds fgepsypevf eppltgypge eleeeeergv

361 klglgdfify svlvgkaaat gsgdwnttla cfvailiglc ltllllavfk kalpalpisi

421 tfglifyfst dnlvrpfmdt lashqlyi


Variants:

R62H caused by AD4

T122P caused by AD4

N141I caused by AD4

V148I cause by AD4

M239V caused by AD4


PBD code: 1Q1C

Chain identifiers: A

Start position query: 325

Start position PDB protein: 130

End position query: 360

End position PDB protein: 170


Name: Presenilin 1 (PS-1) (S182 protein).

Assession: P49769

Origin:

1 mteipaplsy fqnaqmseds hsssairsqn dsqerqqqhd rqrldnpepi sngrpqsnsr



61 qvveqdeeed eeltlkygak hvimlfvpvt lcmvvvvati ksvsfytrkd gqliytpfte

121 dtetvgqral hsilnaaimi svivimtill vvlykyrcyk vihawliiss llllfffsfi

181 ylgevfktyn vavdyvtval liwnfgvvgm iaihwkgplr lqqaylimis almalvfiky

241 lpewtawlil avisvydlva vlcpkgplrm lvetaqerne tlfpaliyss tmvwlvnmae

301 gdpeaqrrvp knpkyntqra eretqdsgsg nddggfseew eaqrdshlgp hrstpesraa

361 vqelsgsilt sedpeergvk lglgdfifys vlvgkasata sgdwnttiac fvailiglcl

421 tllllaifkk alpalpisit fglvfyfatd ylvqpfmdql afhqfyi
Variant:

S9T caused by Strain SAM P8

D40E caused by Strain SAM P8

E67CM caused by Strain SAM P8

ER 321..322RRD caused by Strain SAM P8

PBD code: 1P22

Chain identifiers: A

Start position query: 253

Start position PDB protein: 258

End position query: 313

End position PDB protein: 426
PBD code: 1SMY

Chain identifiers: D/N

Start position query: 300

Start position PDB protein: 300

End position query: 376

End position PDB protein: 375


Name: Presenilin 1 (PS-1) (S182 protein).

Assession: P49768

Origin:

mtelpaplsy fqnaqmsedn hlsntvrsqn dnrerqehnd rrslghpepl sngrpqgnsr



qvveqdeeed eeltlkygak hvimlfvpvt lcmvvvvati ksvsfytrkd gqliytlfte

dtetvgqral hsilnaaimi svivvmtill vvlykyrcyk vihawliiss llllfffsfi

ylgevfktyn vavdyitval liwnfgvvgm isihwkgplr lqqaylimis almalvfiky

lpewtawlil avisvydlva vlcpkgplrm lvetaqerne tlfpaliyss tmvwlvnmae

gdpeaqrrvs knskynaest eresqdtvae nddggfseew eaqrdshlgp hrstpesraa

vqelsssila gedpeergvk lglgdfifys vlvgkasata sgdwnttiac fvailiglcl

tllllaifkk alpalpisit fglvfyfatd ylvqpfmdql afhqfyi
Variants

A79V caused by AD3

V82L caused by AD3

C92S caused by AD3

V96F caused by AD3

F105L caused by AD3

L113P caused by AD3 frontemporal dementia

Y115C caused by AD3

T116N caused by AD3

P117L caused by AD3

E120D caused by AD3 PDb code: 1S14

E120K caused by AD3

R128G caused by AD3

N135D caused by AD3

M139I caused by AD3

M139K caused by AD3

M139T caused by AD3

M139V caused by AD3

I143F caused by AD3

I143T caused by AD3

M146I caused by AD3

M146L caused by AD3

M146V caused by AD3

T147I caused by AD3

H163R caused by AD3

H163Y caused by AD3

W165C caused by AD3

J166P caused by AD3

S169L caused by AD3

1169P caused by AD3

L171P caused by AD3

L173W caused by AD3

L174M caused by AD3

F205L caused by AD3

G206A caused by AD3

G209R caused by AD3

G209V caused by AD3

I213T caused by AD3

L219P caused by AD3

A231T caused by AD3

A231V caused by AD3

M233L caused by AD3

M233T caused by AD3

L235P caused by AD3

A246E caused by AD3

L250S caused by AD3

A260V caused by AD3

L262F caused by AD3

C263R caused by AD3

P264L caused by AD3

G266S caused by AD3

P267S caused by AD3

P267T caused by AD3

R269G caused by AD3

R269H caused by AD3

L271V caused by AD3

R278T caused by AD3

E280A caused by AD3

E280G caused by AD3

L282R caused by AD3

A285V caused by AD3

L286V caused by AD3

S289C caused by AD3

E318G caused by AD3

G378E caused by AD3

G384A caused by AD3

S390I caused by AD3

L392V caused by AD3

N405S caused by AD3

A409T caused by AD3

C410Y caused by AD3

A426P caused by AD3

P436Q caused by AD3

P436S caused by AD3


PBD code: 3LAD

Chain identifiers: A/B

Start position query: 277

Start position PDB protein: 346

End position query: 379

End position PDB protein: 445


PBD code:

1SMY 1IW7

Chain identifiers: D/N

Start position query: 339

Start position PDB protein: 338

End position query: 376

End position PDB protein: 375

Name: Apolipoprotein A-II precursor (Apo-AII).

Assession: P09813

Origin:


1 mkllamvall vticslegal vkrqadgpdm qslftqyfqs mteygkdlve kaktseiqsq

61 vkayfekthe qltplvrsag tslvnffssl mnleekpapa ak


Variants: Defects in Apoa2 are the cause of senescence accelerated mouse (SAM), the senile amyloid is a mutated apolipoprotein A-II.

P28Q causes SAM

E43D Causes IN STRAINS C57BL/6J AND DBA/2J

L48F causes PCR

V49M causes IN STRAINS C57BL/6J AND DBA/2J

V61A causes IN STRAINS C57BL/6J AND DBA/2J


PBD code: 1L6L

Chain identifiers: A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/S/T/U/V/W/X/Y/Z/1/2/3/4/5/6/7/8

Start position query: 24

Start position PDB protein: 1

End position query: 98

End position PDB protein: 75


PBD code: 1L6K

Chain identifiers: A/B/C/D/E/F/G/H/I/J/K/L

Start position query: 24

Start position PDB protein: 1



End position query: 98

End position PDB protein: 75


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