Mdfptisrsp sgppamdleg prdilvpsed ltpdsqwdpm pggpgslsrm eldesslqel
tải về 127.71 Kb.
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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
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
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
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
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
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
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
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
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
S101P causes AD L152G causes AD E155G causes AD S158G causes AD
Accession: P37840 Origin: mdvfmkglsk akegvvaaae ktkqgvaeaa gktkegvlyv gsktkegvvh gvatvaektk eqvtnvggav vtgvtavaqk tvegagsiaa atgfvkkdql gkneegapqe giledmpvdp dneayempse egyqdyepea Variants: A30P in PARK1 A53T in PARK1
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
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
D214N in FAF (familial amyloidosis finnish type) D214Y in FAF
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
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
G89S in allele A A107V in allele A
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
A120D in strain SJL/J
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
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
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
R171K
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
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
D86A
VG88.89LE Name: Presenilin 2 (PS-2) (STM-2) (E5-1) (AD3LP) (AD5). Assession: P49810 Origin:
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
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
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
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 tải về 127.71 Kb. Chia sẻ với bạn bè của bạn:
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