Home > Mutations Untitled Document The mutations reported from von Willebrand factor are listed below: Click on the highlighted residues for further information on mutation. MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYLLAGGCQKRSFSIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYLETEAGYYKLSGEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCGNFNIFAEDDFMTQEGTLTSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKGLWEQCQLLKSTSVFARCHPLVDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGMVLYGWTDHSACSPVCPAGMEYRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEGLCVESTECPCVHSGKRYPPGTSLSRDCNTCICRNSQWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCQDHSFSIVIETVQCADDRDAVCTRSVTVRLPGLHNSLVKLKHGAGVAMDGQDVQLPLLKGDLRIQHTVTASVRLSYGEDLQMDWDGRGRLLVKLSPVYAGKTCGLCGNYNGNQGDDFLTPSGLAEPRVEDFGNAWKLHGDCQDLQKQHSDPCALNPRMTRFSEEACAVLTSPTFEACHRAVSPLPYLRNCRYDVCSCSDGRECLCGALASYAAACAGRGVRVAWREPGRCELNCPKGQVYLQCGTPCNLTCRSLSYPDEECNEACLEGCFCPPGLYMDERGDCVPKAQCPCYYDGEIFQPEDIFSDHHTMCYCEDGFMHCTMSGVPGSLLPDAVLSSPLSHRSKRSLSCRPPMVKLVCPADNLRAEGLECTKTCQNYDLECMSMGCVSGCLCPPGMVRHENRCVALERCPCFHQGKEYAPGETVKIGCNTCVCRDRKWNCTDHVCDATCSTIGMAHYLTFDGLKYLFPGECQYVLVQDYCGSNPGTFRILVGNKGCSHPSVKCKKRVTILVEGGEIELFDGEVNVKRPMKDETHFEVVESGRYIILLLGKALSVVWDRHLSISVVLKQTYQEKVCGLCGNFDGIQNNDLTSSNLQVEEDPVDFGNSWKVSSQCADTRKVPLDSSPATCHNNIMKQTMVDSSCRILTSDVFQDCNKLVDPEPYLDVCIYDTCSCESIGDCACFCDTIAAYAHVCAQHGKVVTWRTATLCPQSCEERNLRENGYECEWRYNSCAPACQVTCQHPEPLACPVQCVEGCHAHCPPGKILDELLQTCVDPEDCPVCEVAGRRFASGKKVTLNPSDPEHCQICHCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVEDISEPPLHDFYCSRLLDLVFLLDGSSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVEYHDGSHAYIGLKDRKRPSELRRIASQVKYAGSQVASTSEVLKYTLFQIFSKIDRPEASRIALLLMASQEPQRMSRNFVRYVQGLKKKKVIVIPVGIGPHANLKQIRLIEKQAPENKAFVLSSVDELEQQRDEIVSYLCDLAPEAPPPTLPPDMAQVTVGPGLLGVSTLGPKRNSMVLDVAFVLEGSDKIGEADFNRSKEFMEEVIQRMDVGQDSIHVTVLQYSYMVTVEYPFSEAQSKGDILQRVREIRYQGGNRTNTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIKRLPGDIQVVPIGVGPNANVQELERIGWPNAPILIQDFETLPREAPDLVLQRCCSGEGLQIPTLSPAPDCSQPLDVILLLDGSSSFPASYFDEMKSFAKAFISKANIGPRLTQVSVLQYGSITTIDVPWNVVPEKAHLLSLVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILVTDVSVDSVDAAADAARSNRVTVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTMVTLGNSFLHKLCSGFVRICMDEDGNEKRPGDVWTLPDQCHTVTCQPDGQTLLKSHRVNCDRGLRPSCPNSQSPVKVEETCGCRWTCPCVCTGSSTRHIVTFDGQNFKLTGSCSYVLFQNKEQDLEVILHNGACSPGARQGCMKSIEVKHSALSVELHSDMEVTVNGRLVSVPYVGGNMEVNVYGAIMHEVRFNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRDGTVTTDWKTLVQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFYAICQQDSCHQEQVCEVIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHCDGNVSSCGDHPSEGCFCPPDKVMLEGSCVPEEACTQCIGEDGVQHQFLEAWVPDHQPCQICTCLSGRKVNCTTQPCPTAKAPTCGLCEVARLRQNADQCCPEYECVCDPVSCDLPPVPHCERGLQPTLTNPGECRPNFTCACRKEECKRVSPPSCPPHRLPTLRKTQCCDEYECACNCVNSTVSCPLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAVMGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMYSIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSK Missense Position* Wild type Mutant Domain PMID 19GlyArg 1956655022GlyGlu 912903125CysTyr 919819528ThrMet 183293435CysArgVWFD 12136212747AspHisVWFD 11273794453ArgTrpVWFD 1781910954HisGlnVWFD 1856292560LeuProVWFD 12171144581ArgGlyVWFD 12136212785SerProVWFD 11273794487TyrSerVWFD 11217689091ArgGlnVWFD 1979228695CysPheVWFD 19198195116AspAsnVWFD 19198195, 9845532129LeuMetVWFD 117190853141AspAsnVWFD 112737944141AspGlyVWFD 117080221141AspTyrVWFD 112737944, 18328061160GlyTrpVWFD 119566550166AsnIleVWFD 119566550174LysGluVWFD 119237732202ArgTrpVWFD 119422453239MetValVWFD 119951970273ArgTrp 18485763275CysArg 17155947275CysSer 18328061, 12737944295CysSerTIL 121362127297CysArgTIL 19198195377TrpCys 7989040386CysArg 8839833505HisAspVWFD 28376405509CysArgVWFD 21419804509CysGlyVWFD 29198195513LeuProVWFD 29198195528AsnSerVWFD 28011991, 9714529543ArgCysVWFD 21419803543ArgGlnVWFD 29108394543ArgLeuVWFD 210233434543ArgTrpVWFD 212558793545ArgCysVWFD 29858249545ArgHisVWFD 29198195546IleValVWFD 29308766550GlyArgVWFD 27789955551ValLeuVWFD 21419803552ArgCysVWFD 29198195555ValLeuVWFD 21419803558AspTyrVWFD 220801902561SerGlyVWFD 28621553570CysSerVWFD 218690339576MetIleVWFD 217190853578ArgGlnVWFD 210102532596GluLysVWFD 29198195606PheIle 9473222611ArgCys 9031470611ArgHis 10932002611ArgLeu 9198195623CysThr 21362127623CysTrp 8049421662IlePheTIL 29473222695CysTyrTIL 29198195737AlaGlu 11601234740MetIle 16420565742GlyGlu 1324533743SerLeu 1380739751PheCys 8435341760ArgCys 12393698760ArgHis 19687512762LysGlu 17190853763ArgGly 19506358, 16953269777LeuProTIL 38123844782ArgTrpTIL 38562925785GlyGluTIL 39129031787GluLysTIL 37989040788CysArgTIL 310706867, 16834740788CysTyrTIL 39198195791ThrMetTIL 37989040, 8500791793GlnArgTIL 39198195795TyrCysTIL 319506358799LeuProTIL 31380739804CysPheTIL 312028048, 15461624812ProLeuTIL 317681836816ArgTrpTIL 31631785, 1732004817HisGlnTIL 39684781817LeuProTIL 38562403834ArgGln 10404778834ArgTrp 10932002841ValPhe 9198195846GlyArg 8338947849CysTyr 19422453854ArgGln 16953269, 8096943854ArgTrp 19506358858CysPhe 9684781, 9198195858CysTrp 18094571864ProHis 9858250865IleThr 8123844867ValGluVWFD 39858250875GluLysVWFD 31419804876LeuProVWFD 39198195879AspAsnVWFD 39845532, 19506358895GlnHisVWFD 318712522902ValGluVWFD 38639896924ArgGlnVWFD 320492463924ArgTrpVWFD 317190853956ValAlaVWFD 320351307976ArgCysVWFD 320351307996CysGluVWFD 3171908531053GlnHisVWFD 3125883491060CysArgVWFD 3125883491060CysTyrVWFD 3215967551071CysPheVWFD 3127379441091CysArg 203513071105AlaAsp 203513071111CysTyr 171908531120TrpSer 203513071121ArgMet 203513071126CysPhe 203513071130CysArg 203513071130CysPhe 20829681, 20510102, 19923982, 20860169, 1130CysTrp 203513071144TrpGly 168353811146TyrCysTIL 420829681, 20510102, 19923982, 20860169, 1149CysArgTIL 420829681, 20510102, 19923982, 20860169, 1149CysTyrTIL 4203513071153CysTyrTIL 4203513071156ThrMetTIL 411529461, 168705501157CysPheTIL 4164094641169CysTrpTIL 4203513071172GlyCysTIL 4203513071173CysPheTIL 4203513071190CysArgTIL 420829681, 20510102, 19923982, 20860169, 1190CysTyrTIL 4203513071195AspTyrTIL 4203513071205ArgHis 20829681, 20510102, 19923982, 20860169, 1227CysArg 20829681, 20510102, 19923982, 20860169, 1229ValGly 17190853, 95691781231AsnThr 9569178, 171908531234CysTrp 164094641263SerPro 184857631266ProGln 188059621266ProLeu 8486782, 8096943, 188059621268HisAsn 164304551268HisAsp 18805962, 83764051272CysGly 91981951272CysSer 147553711276LeuPro 91981951278LeuArgVWFA 1203513071278LeuProVWFA 1203513071279ValIleVWFA 118485763, 80969431285SerPheVWFA 1125883511306ArgGlnVWFA 198582491306ArgTrpVWFA 19723578, 197405261308ArgCysVWFA 19723578, 1761120, 162462521308ArgHisVWFA 191981951308ArgLeuVWFA 1188059621308ArgProVWFA 19858249, 170877281309IleValVWFA 18621553, 9308766, 188059621313TrpCysVWFA 120116041314ValAspVWFA 1113256491314ValPheVWFA 117087728, 82981431315ArgCysVWFA 120829681, 20510102, 19923982, 20860169, 1316ValMetVWFA 19723578, 9423819, 19060241, 114751501324GlyAlaVWFA 117087728, 91981951324GlySerVWFA 116420575, 14097101337ProLeuVWFA 19723578, 1373334, 171559471341ArgGlnVWFA 11400429, 1672694, 188059621341ArgLeuVWFA 198582491341ArgTrpVWFA 19723578, 188059621343IleValVWFA 1184857631359GluLysVWFA 19198195, 170877281360ValAlaVWFA 1184857631362LysThrVWFA 1170877281363TyrCysVWFA 1210949831369PheIleVWFA 118485763, 94732221372IleSerVWFA 1180643111374ArgCysVWFA 17620154, 162477401374ArgHisVWFA 120829681, 20510102, 19923982, 20860169, 1374ArgLeuVWFA 191981951379ArgCysVWFA 1113256491389GluLysVWFA 1210949831413ProLeuVWFA 1171908531421AsnLysVWFA 1186371251425IlePheVWFA 19473222, 9198195, 170877281437AlaThrVWFA 1113256491446LeuProVWFA 1155702431447GluGlnVWFA 1176818361458CysTyr 91981951460LeuPhe 210949831460LeuVal 81238431461AlaVal 85471521477ThrIle 180945711499ValGluVWFA 2193468811500AlaGlnVWFA 2111972231503LeuArgVWFA 2183972851503LeuGlnVWFA 215322948, 152191971505GlyArgVWFA 215322948, 15378291505GlyGluVWFA 215322948, 1324533, 15378291506SerLeuVWFA 220829681, 20510102, 19923982, 20860169, 1514PheCysVWFA 284353411540LeuProVWFA 21537829, 81238441540LueProVWFA 2153229481556GlnArgVWFA 291981951562LeuProVWFA 213807391579GlyArgVWFA 2129240381580LeuValVWFA 2196982551583ArgGlnVWFA 2194224531584TyrCysVWFA 220829681, 20510102, 19923982, 20860169, 1597ArgGlnVWFA 28338947, 88655411597ArgGlyVWFA 283489431597ArgTrpVWFA 28865541, 1380739, 153229481604ValPheVWFA 291981951607ValAspVWFA 215378291609GlyArgVWFA 28865541, 8348943, 8338947, 176818361628IleThrVWFA 21673047, 8123844, 153229481629GlyArgVWFA 215377475, 102031061638GluLysVWFA 28204881, 1429668, 170877281639LeuProVWFA 291981951648ProSerVWFA 21420817, 170877281649IleAsnVWFA 2208019021657LeuILeVWFA 2110199571665ValGluVWFA 28338947, 199519691668ArgSer 171908531672GlyArg 88655411731SerThrVWFA 319687512, 115833181745TrpCysVWFA 3196875121760ValIleVWFA 3171908531783SerAlaVWFA 3196875121794LysGluVWFA 3184857631818AsnSerVWFA 3171908531822ValGlyVWFA 3199519691824ProHisVWFA 3168705501964GlnLysVWFD 4208019022008CysSerVWFD 4114681662008CysTyrVWFD 4114681662010CysArgVWFD 4114681662063ProSerVWFD 4195665502104ThrIleVWFD 4171908532174CysGly 11057846, 127379442179SerPhe 17596142, 168353812185ArgGln 171908532207LeuPro 195665502233GluGly 171908532237CysPhe 217114452257CysSerVWFC 1195665502287ArgGlnVWFC 1214293752287ArgTrpVWFC 1195665502304CysTyrVWFC 1195665502313ArgHisVWFC 1195665502340CysArg 171908532343GlyVal 171908532362CysPhe 19951969, 17393013, 17109387, 16643449, 95691782441GlyCysVWFC 2195665502464ArgCysVWFC 2195665502477CysTyrVWFC 2195665502497SerPro 171908532518GlySer 195665502520GlnPro 195665502546AsnTyr 14487792647ThrMet 171908532671CysTyr 161942002739CysTyrCTCK215967552754CysTrpCTCK20829681, 20510102, 19923982, 20860169, 2781ProSerCTCK176818362801AlaAspCTCK166760672804CysTyrCTCK11057846, 12737944 Insertion Mutation Codon Exon/Intron Domain PMID 3259insT 18485763 3737insCC 18485763 7173insT 18485763 insC Exon 28 8088787 1203insG Exon 8 17880457 5180insTT Exon 30 17190853 8412insTCCC Exon 52 17190853 7375insC 11057846 7921insC 11057846 insAATCCC Exon 11 9569179 nt1658 insT 21711445 1992insC 21362127 5315insGA 21362127 2540_2541insA 20801902 Deletion Mutation Codon Exon/Intron Domain PMID delC Exon 18 8088787 20-bp deletion Exon 15 8088787 221-977_532 + 7059del 19372260 1309-1326del18bp Exon 12 19192112 2435delC Exon 18 18665926 3938delG 18485763 1381delG 18485763 8 bp (duplAGTGTGGA) Exon 28 18485763 2016_2019del 18328061 2435delC Exon 18 17190853 1405-1408delAAG Exon 28 17190853 4637-4645del Exon 28 17190853 2908delC Exon 22 17109387 4944delT 17080221 205delCT 16834740 3699delACAT 16834740 8437-8444del8bp 11468166 8566delC Exon 52 11264172 437delG 11057846 2680delC Exon 18 11057846 6431delT 11057846 8491-8499del 11057846 642-645del3bp 10959688 2680delC Exon 18 9792286 7055_7081del9bp 21393328 3622delT 21362127 7333delG 21362127 Nonsense Mutation* Codon Exon/Intron Domain PMID Gln1388X 21711445 Gln1238X 21362127 Gln1898X 21362127 Gln1931X 21362127 Ser2505X 21362127 Ser2568X 21362127 Gln77X exon 4 20854374 Ser71X VWFD 1 11243141 Val79X VWFD 1 9792286 Gln218X VWFD 1 11057846 Trp222X VWFD 1 18328061, 11057846 Arg365X 11057846 Arg373X 11057846 Ser500X VWFD 2 8486782 Trp553X VWFD 2 18485763 Trp642X 17190853 Glu644X 11057846 Gln706X TIL 2 11057846 Arg896X VWFD 3 9845532 Leu1267X 18485763 Gln1311X VWFA 1 18485763, 11122100 Ser1338X VWFA 1 11057846 Gln1346X VWFA 1 11057846 Tyr1456X Exon 28 17880457 Tyr1542X VWFA 2 11057846 Arg1659X VWFA 2 18485763, 11057846 Glu2129X VWFD 4 11057846 Gln2470X VWFC 2 12353070 Arg2535X 1448779 Polymorphism Mutation* Codon Exon/Intron Domain PMID Thr26Ala 8562925 Leu697Val TIL 2 8123843 Thr789Ala TIL 3 12636925 Arg854Gln 19951969 Arg924Gln VWFD 3 17190853 Ser1269Ser 16834740 Ile1380Val Exon 28 VWFA 1 20231421 Asn1435Ser Exon 28 VWFA 1 20301226, 19937244, 20331761, 20664902, 21429375, 20231421 Asp1472His Exon 28 20301226, 19937244, 20331761, 20664902, 21429375, 20231421 Tyr1584Cys VWFA 2 17949477 Ile1380Val 20231421 Splice site Mutation Codon Exon/Intron Domain PMID 2685+2T>C 17190853 3378+1G>A 17190853 3537+1G>A 17190853 6798+1G>T 17190853 6599-20A>T 17190853 3108+5G>A 17080221 7437+1G>A 17080221 3379+1G>A 17080221 IVS9(-1)g>a 11057846 IVS29(+10)c>t 11057846 IVS40(-1)g>c 11057846 1730-10C>A 21362127 1109+2T>C intron 9 20854374 7770+1G>T intron 46 20854374 1533+15G>A intron 13 20801902 533+2A>G intron 6 20801902 * The positions are based on the protein sequence inclusive of the signal peptide if present.
Home > Mutations
The mutations reported from von Willebrand factor are listed below:
Click on the highlighted residues for further information on mutation.
MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYLLAGGCQKRSFSIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYLETEAGYYKLSGEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCGNFNIFAEDDFMTQEGTLTSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKGLWEQCQLLKSTSVFARCHPLVDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGMVLYGWTDHSACSPVCPAGMEYRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEGLCVESTECPCVHSGKRYPPGTSLSRDCNTCICRNSQWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCQDHSFSIVIETVQCADDRDAVCTRSVTVRLPGLHNSLVKLKHGAGVAMDGQDVQLPLLKGDLRIQHTVTASVRLSYGEDLQMDWDGRGRLLVKLSPVYAGKTCGLCGNYNGNQGDDFLTPSGLAEPRVEDFGNAWKLHGDCQDLQKQHSDPCALNPRMTRFSEEACAVLTSPTFEACHRAVSPLPYLRNCRYDVCSCSDGRECLCGALASYAAACAGRGVRVAWREPGRCELNCPKGQVYLQCGTPCNLTCRSLSYPDEECNEACLEGCFCPPGLYMDERGDCVPKAQCPCYYDGEIFQPEDIFSDHHTMCYCEDGFMHCTMSGVPGSLLPDAVLSSPLSHRSKRSLSCRPPMVKLVCPADNLRAEGLECTKTCQNYDLECMSMGCVSGCLCPPGMVRHENRCVALERCPCFHQGKEYAPGETVKIGCNTCVCRDRKWNCTDHVCDATCSTIGMAHYLTFDGLKYLFPGECQYVLVQDYCGSNPGTFRILVGNKGCSHPSVKCKKRVTILVEGGEIELFDGEVNVKRPMKDETHFEVVESGRYIILLLGKALSVVWDRHLSISVVLKQTYQEKVCGLCGNFDGIQNNDLTSSNLQVEEDPVDFGNSWKVSSQCADTRKVPLDSSPATCHNNIMKQTMVDSSCRILTSDVFQDCNKLVDPEPYLDVCIYDTCSCESIGDCACFCDTIAAYAHVCAQHGKVVTWRTATLCPQSCEERNLRENGYECEWRYNSCAPACQVTCQHPEPLACPVQCVEGCHAHCPPGKILDELLQTCVDPEDCPVCEVAGRRFASGKKVTLNPSDPEHCQICHCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVEDISEPPLHDFYCSRLLDLVFLLDGSSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVEYHDGSHAYIGLKDRKRPSELRRIASQVKYAGSQVASTSEVLKYTLFQIFSKIDRPEASRIALLLMASQEPQRMSRNFVRYVQGLKKKKVIVIPVGIGPHANLKQIRLIEKQAPENKAFVLSSVDELEQQRDEIVSYLCDLAPEAPPPTLPPDMAQVTVGPGLLGVSTLGPKRNSMVLDVAFVLEGSDKIGEADFNRSKEFMEEVIQRMDVGQDSIHVTVLQYSYMVTVEYPFSEAQSKGDILQRVREIRYQGGNRTNTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIKRLPGDIQVVPIGVGPNANVQELERIGWPNAPILIQDFETLPREAPDLVLQRCCSGEGLQIPTLSPAPDCSQPLDVILLLDGSSSFPASYFDEMKSFAKAFISKANIGPRLTQVSVLQYGSITTIDVPWNVVPEKAHLLSLVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILVTDVSVDSVDAAADAARSNRVTVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTMVTLGNSFLHKLCSGFVRICMDEDGNEKRPGDVWTLPDQCHTVTCQPDGQTLLKSHRVNCDRGLRPSCPNSQSPVKVEETCGCRWTCPCVCTGSSTRHIVTFDGQNFKLTGSCSYVLFQNKEQDLEVILHNGACSPGARQGCMKSIEVKHSALSVELHSDMEVTVNGRLVSVPYVGGNMEVNVYGAIMHEVRFNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRDGTVTTDWKTLVQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFYAICQQDSCHQEQVCEVIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHCDGNVSSCGDHPSEGCFCPPDKVMLEGSCVPEEACTQCIGEDGVQHQFLEAWVPDHQPCQICTCLSGRKVNCTTQPCPTAKAPTCGLCEVARLRQNADQCCPEYECVCDPVSCDLPPVPHCERGLQPTLTNPGECRPNFTCACRKEECKRVSPPSCPPHRLPTLRKTQCCDEYECACNCVNSTVSCPLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAVMGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQWASPENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERMEACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGECCGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHKCLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMYSIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSK
Missense
Insertion
Deletion
Nonsense
Polymorphism
Splice site
* The positions are based on the protein sequence inclusive of the signal peptide if present.
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