Reports |
substitution |
cSNPs | 15 |
Insertion | 13 |
Deletion | 20 |
SNPs |
-1kb
132311410(c.-4820C>T),
132311533(c.-4697G>A),
132311683(c.-4547C>A),
132311723(c.-4507C>T),
132312052(c.-4178T>C),
132312097(c.-4133A>G),
132312136(c.-4094C>T),
132312453(c.-3777A>G),
132312510(c.-3720T>C),
132312534(c.-3696G>A),
132312658(c.-3572T>A),
132312682(c.-3548G>A),
132312687(c.-3543T>G),
132312738(c.-3492G>A),
132312766(c.-3464G>T),
132312775(c.-3455A>G),
132312792(c.-3438G>A),
132312820(c.-3410T>C),
132312935(c.-3295T>A),
132313163(c.-3067A>G),
132313189(c.-3041T>G),
132313414(c.-2816A>G),
132313571(c.-2659T>C),
132313629(c.-2601A>T),
132313632(c.-2598T>G),
132313717(c.-2513A>G),
132313904(c.-2326A>C),
132314212(c.-2018T>G),
132314315(c.-1915C>T),
132314336(c.-1894T>C),
132314355(c.-1875C>T),
132314363(c.-1867G>T),
132314548(c.-1682G>A),
132314558(c.-1672A>G),
132314733(c.-1497T>A),
132314886(c.-1344G>A),
132314908(c.-1322T>C),
132314947(c.-1283C>T),
132315088(c.-1142A>T),
132315339(c.-891T>C),
132315729(c.-501A>G),
132315735(c.-495A>G),
132315887(c.-343A>G),
132315919(c.-311C>T),
132315923(c.-307A>T),
132316124(c.-106C>T),
5'UTR
CDS
132316415(c.186G>C),
132324967(c.258C>A),
132327758(c.426T>C),
132328146(c.532C>A),
132331477(c.992T>C),
132331589(c.1104T>C),
132331598(c.1113G>C),
132331652(c.1167A>G),
132331691(c.1206C>T),
132331718(c.1233G>A),
132331751(c.1266G>T),
132331926(c.1441G>A),
132332313(c.1828C>A),
132332324(c.1839C>T),
132332369(c.1884A>G),
3'UTR
INTRON
132316540(c.243+68C>A),
132316546(c.243+74C>T),
132316588(c.243+116A>G),
132316599(c.243+127C>G),
132316602(c.243+130T>A),
132316645(c.243+173G>T),
132316722(c.243+250T>C),
132316759(c.243+287C>T),
132316807(c.243+335G>T),
132316814(c.243+342T>C),
132316845(c.243+373A>G),
132316906(c.243+434T>C),
132317360(c.243+888A>G),
132317520(c.243+1048A>T),
132317639(c.243+1167T>C),
132317646(c.243+1174C>T),
132317649(c.243+1177A>C),
132317913(c.243+1441G>A),
132317934(c.243+1462A>G),
132317994(c.243+1522G>A),
132317998(c.243+1526T>G),
132318008(c.243+1536A>G),
132318207(c.243+1735A>G),
132318254(c.243+1782G>A),
132318482(c.243+2010G>A),
132318510(c.243+2038T>C),
132318523(c.243+2051C>T),
132318658(c.243+2186T>C),
132318887(c.243+2415C>T),
132319121(c.243+2649A>C),
132319636(c.243+3164A>G),
132320044(c.243+3572A>G),
132320184(c.243+3712T>A),
132320426(c.243+3954A>C),
132320614(c.243+4142A>G),
132320615(c.243+4143T>C),
132321462(c.244-3491A>C),
132322019(c.244-2934G>A),
132322064(c.244-2889A>G),
132322286(c.244-2667A>G),
132322688(c.244-2265T>C),
132323295(c.244-1658C>A),
132323304(c.244-1649G>C),
132323538(c.244-1415C>T),
132323891(c.244-1062T>G),
132324798(c.244-155G>A),
132325226(c.364+153A>G),
132325242(c.364+169A>C),
132325258(c.364+185G>A),
132325381(c.364+308C>T),
132325434(c.364+361T>G),
132325523(c.364+450T>C),
132325760(c.364+687C>T),
132325899(c.364+826G>C),
132325902(c.364+829A>G),
132325963(c.364+890C>T),
132325965(c.364+892C>G),
132326082(c.364+1009A>T),
132326114(c.364+1041A>C),
132326137(c.364+1064T>C),
132326431(c.365-1266A>G),
132326535(c.365-1162T>C),
132326846(c.365-851T>C),
132326918(c.365-779G>A),
132327043(c.365-654A>G),
132327141(c.365-556T>G),
132327153(c.365-544C>T),
132327197(c.365-500G>C),
132327258(c.365-439G>T),
132327289(c.365-408T>A),
132327315(c.365-382T>C),
132327682(c.365-15G>A),
132327895(c.516+47A>G),
132327968(c.516+120A>G),
132327989(c.516+141G>A),
132328258(c.582+62C>T),
132328572(c.582+376A>C),
132328617(c.582+421C>T),
132328768(c.582+572T>C),
132329927(c.583-31C>T),
132330098(c.702+21A>G),
132330701(c.835+10T>G),
132330712(c.835+21A>G),
132330959(c.835+268C>T),
132331118(c.836-203A>G),
132331123(c.836-198G>A),
132331259(c.836-62C>A),
132331269(c.836-52G>A),
+1kb
132333559(c.*1178T>C),
132333705(c.*1324A>G),
132333719(c.*1338A>G),
132333742(c.*1361G>A),
132333774(c.*1393C>A),
132333893(c.*1512C>T),
132334193(c.*1812C>T),
132334306(c.*1925T>A),
132334666(c.*2285C>T),
132335020(c.*2639T>C),
132335113(c.*2732A>G),
132335273(c.*2892T>C),
132335858(c.*3477G>A),
132335906(c.*3525G>A),
132335978(c.*3597C>A),
132336068(c.*3687C>T),
132336229(c.*3848C>T),
132336255(c.*3874G>A),
132336323(c.*3942C>T),
132336328(c.*3947T>C),
132336524(c.*4143G>A),
132336705(c.*4324C>G),
132336787(c.*4406G>T),
132336923(c.*4542T>C),
132337018(c.*4637G>A),
132337500(c.*5119A>G),
132337501(c.*5120C>T),
132337508(c.*5127G>A),
132337606(c.*5225G>A),
132337612(c.*5231C>G),
132337714(c.*5333G>A),
132337785(c.*5404T>C),
132337895(c.*5514G>A),
132337990(c.*5609G>A),
132338009(c.*5628C>A),
132338045(c.*5664G>A),
132338148(c.*5767A>G),
132338257(c.*5876T>A),
132338376(c.*5995A>G),
132338396(c.*6015T>C),
132338422(c.*6041G>A),
|
Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
132316606 (c.243+134_243+135insGA),
132317850 (c.243+1390_243+1391dupGA),
132318065 (c.243+1596_243+1597insGCCCC),
132321409 (c.244-3537dupA),
132323252 (c.244-1701_244-1700insCAACC),
132323315 (c.244-1638_244-1637insCCG),
132325889 (c.364+820dupG),
132325893 (c.364+820dupG),
132326245 (c.364+1177dupC),
132329684 (c.583-269_583-268insAGGGGCC),
132330924 (c.835+235_835+236insCTACTA),
+1kb
|
Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
132316599 (c.243+128delT),
132325315 (c.364+243_364+247delAAAAA),
132325328 (c.364+256_364+257delAC),
132325985 (c.364+913_364+915delAGG),
132326378 (c.364+1306_364+1312delGTGTGTG),
132327641 (c.365-49_365-46delTGGG),
132329074 (c.582+879_583-880delCCCC),
132330519 (c.703-36_703-35delGT),
132330893 (c.835+203_835+205delGCT),
132331194 (c.836-121_836-117delGGAGT),
+1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 12 |
non-synonymous num | 3 |
synonymous substitutions |
132316415 (p.Thr62Thr),
132324967 (p.Ser86Ser),
132327758 (p.Tyr142Tyr),
132328146 (p.Arg178Arg),
132331589 (p.Thr368Thr),
132331598 (p.Gly371Gly),
132331652 (p.Gln389Gln),
132331691 (p.Arg402Arg),
132331718 (p.Pro411Pro),
132331751 (p.Ser422Ser),
132332324 (p.Cys613Cys),
132332369 (p.Ser628Ser),
|
non-synonymous substitutions |
132331477 (p.Phe331Ser),
132331926 (p.Ala481Thr),
132332313 (p.Leu610Met),
|
B6 transcript
(ENSMUST00000082125)
|
MESVALLQRPSQAPSASALASESARPLADGLIKSPKPLMKKQAVKRHHHKHNLRHRYEFL
ETLGKGTYGKVKKARESSGRLVAIKSIRKDKIKDEQDLLHIRREIEIMSSLNHPHIIAIH
EVFENSSKIVIVMEYASRGDLYDYISERPRLSERDARHFFRQIVSALHYCHQNGIVHRDL
KLENILLDANGNIKIADFGLSNLYHKGKFLQTFCGSPLYASPEIVNGKPYVGPEVDSWSL
GVLLYILVHGTMPFDGQDHKTLVKQISNGAYREPPKPSDACGLIRWLLMVNPTRRATLED
VASHWWVNWGYTTGVGEQEALREGGHPSGDFGRASMADWLRRSSRPLLENGAKVCSFFKQ
HVPGGGSTVPGLERQHSLKKSRKENDMAQNLQGDPAEDTSSRPGKSSLKLPKGILKKKSS
TSSGEVQEDPQELRPVPDTPGQPVPAVSLLPRKGILKKSRQRESGYYSSPEPSESGELLD
ASDVFVSGDPVEQKSPQASGLLLHRKGILKLNGKFSRTALEGTTPSTFGSLDQLASSHPA
ARPSRPSGAVSEDSILSSESFDQLDLPERLPETPLRGCVSVDNLRGLEQPPSEGLKRWWQ
ESLGDSCFSLTDCQEVTAAYRQALGICSKLS*
|
MSMv4 transcript
|
MESVALLQRPSQAPSASALASESARPLADGLIKSPKPLMKKQAVKRHHHKHNLRHRYEFL
ETLGKGTYGKVKKARESSGRLVAIKSIRKDKIKDEQDLLHIRREIEIMSSLNHPHIIAIH
EVFENSSKIVIVMEYASRGDLYDYISERPRLSERDARHFFRQIVSALHYCHQNGIVHRDL
KLENILLDANGNIKIADFGLSNLYHKGKFLQTFCGSPLYASPEIVNGKPYVGPEVDSWSL
GVLLYILVHGTMPFDGQDHKTLVKQISNGAYREPPKPSDACGLIRWLLMVNPTRRATLED
VASHWWVNWGYTTGVGEQEALREGGHPSGDSGRASMADWLRRSSRPLLENGAKVCSFFKQ
HVPGGGSTVPGLERQHSLKKSRKENDMAQNLQGDPAEDTSSRPGKSSLKLPKGILKKKSS
TSSGEVQEDPQELRPVPDTPGQPVPAVSLLPRKGILKKSRQRESGYYSSPEPSESGELLD
TSDVFVSGDPVEQKSPQASGLLLHRKGILKLNGKFSRTALEGTTPSTFGSLDQLASSHPA
ARPSRPSGAVSEDSILSSESFDQLDLPERLPETPLRGCVSVDNLRGLEQPPSEGLKRWWQ
ESLGDSCFSMTDCQEVTAAYRQALGICSKLS*
|
homology | 99.53 (632 / 632) |
|