| Reports |
|---|
| substitution |
|---|
| cSNPs | 3 |
|---|
| Insertion | 12 |
|---|
| Deletion | 17 |
|---|
| SNPs |
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
49545740(c.-24+1023G>C),
49545742(c.-24+1025G>C),
49545744(c.-24+1027G>C),
49545746(c.-24+1029G>C),
49545929(c.-24+1212A>C),
49546082(c.-24+1365A>G),
49546265(c.-24+1548G>A),
49546347(c.-24+1630T>G),
49547364(c.-24+2647C>T),
49547444(c.-24+2727G>A),
49547486(c.-24+2769G>A),
49547511(c.-24+2794C>T),
49547672(c.-24+2955A>C),
49548030(c.-24+3313C>T),
49548202(c.-23-3439C>T),
49548555(c.-23-3086G>C),
49548759(c.-23-2882G>C),
49548976(c.-23-2665A>G),
49549217(c.-23-2424T>G),
49550242(c.-23-1399A>G),
49550448(c.-23-1193T>A),
49550468(c.-23-1173T>C),
49550562(c.-23-1079C>G),
49550639(c.-23-1002A>T),
49550748(c.-23-893C>T),
49550823(c.-23-818G>A),
49550828(c.-23-813T>C),
49550885(c.-23-756C>A),
49552027(c.253+111C>A),
49552103(c.253+187T>C),
49552263(c.253+347T>C),
49552314(c.253+398T>A),
49552353(c.253+437A>G),
49552477(c.253+561C>T),
49552853(c.253+937A>G),
49552861(c.253+945A>C),
49552979(c.254-941T>C),
49553107(c.254-813T>G),
49553224(c.254-696A>G),
49553299(c.254-621T>C),
49553539(c.254-381C>T),
49553541(c.254-379C>G),
49553542(c.254-378T>G),
49553700(c.254-220C>T),
49554162(c.366+130C>A),
49554177(c.366+145T>C),
49554202(c.366+170T>G),
49554303(c.366+271T>G),
49554313(c.366+281G>A),
49554395(c.366+363C>T),
49554469(c.366+437A>G),
49554482(c.366+450A>G),
49554524(c.366+492A>G),
49554576(c.366+544T>C),
49554637(c.366+605A>G),
49554648(c.366+616G>A),
49554650(c.366+618C>T),
49554946(c.366+914A>G),
49554958(c.366+926G>T),
49555060(c.366+1028A>G),
49555301(c.366+1269G>C),
49555702(c.367-1545G>A),
49555720(c.367-1527T>G),
49555884(c.367-1363A>T),
49556160(c.367-1087C>T),
49556203(c.367-1044G>A),
49556247(c.367-1000T>C),
49556393(c.367-854C>T),
49556581(c.367-666A>G),
49556730(c.367-517A>G),
49556878(c.367-369T>C),
49556969(c.367-278T>C),
49557164(c.367-83C>T),
49557548(c.580+88C>T),
49557654(c.580+194G>T),
49557730(c.580+270A>G),
49557811(c.580+351T>A),
49557896(c.580+436C>T),
49557976(c.580+516C>T),
49558034(c.580+574C>T),
49558047(c.580+587T>A),
49558356(c.581-435C>T),
49558359(c.581-432G>A),
49558402(c.581-389A>G),
49558487(c.581-304C>T),
49558505(c.581-286T>C),
49558553(c.581-238C>A),
49558568(c.581-223T>C),
49558638(c.581-153C>T),
49558674(c.581-117T>C),
49558678(c.581-113A>G),
49558718(c.581-73T>C),
49559022(c.691+121T>C),
49559399(c.691+498T>A),
49559481(c.691+580C>G),
49559561(c.691+660A>C),
49559671(c.691+770T>A),
49559704(c.691+803A>T),
49559795(c.691+894G>T),
49560037(c.691+1136C>A),
49560067(c.691+1166T>C),
49560075(c.691+1174C>A),
49560158(c.691+1257G>A),
49560170(c.691+1269T>C),
49560248(c.691+1347G>A),
49560414(c.691+1513A>G),
49560420(c.691+1519A>G),
49560464(c.691+1563A>G),
49560676(c.691+1775T>C),
49560718(c.691+1817C>G),
49560785(c.691+1884G>A),
49560788(c.691+1887G>A),
49561213(c.692-2228T>C),
49561220(c.692-2221C>T),
49561223(c.692-2218T>C),
49561234(c.692-2207T>C),
49561235(c.692-2206G>C),
49561305(c.692-2136A>G),
49561426(c.692-2015T>C),
49561603(c.692-1838A>C),
49561831(c.692-1610G>A),
49561920(c.692-1521A>G),
49561967(c.692-1474T>C),
49562190(c.692-1251T>C),
49562216(c.692-1225T>G),
49562229(c.692-1212A>T),
49562240(c.692-1201A>C),
49562545(c.692-896G>A),
49562679(c.692-762C>T),
49562728(c.692-713G>T),
49562752(c.692-689A>G),
49562799(c.692-642C>G),
49563076(c.692-365T>A),
49563341(c.692-100G>A),
49563360(c.692-81T>C),
49563702(c.786-54T>G),
49563743(c.786-13T>A),
49564268(c.924+374G>T),
49564327(c.924+433A>G),
49564617(c.924+723C>T),
49564621(c.924+727A>C),
49564785(c.924+891T>C),
49564994(c.924+1100C>T),
49565418(c.925-1016A>G),
49565778(c.925-656A>C),
49565796(c.925-638G>A),
49565866(c.925-568T>C),
49565963(c.925-471A>G),
49566037(c.925-397C>G),
49566341(c.925-93C>A),
-
+1kb
49568801(c.*2170T>G),
49569826(c.*3195T>A),
49570069(c.*3438C>A),
49570124(c.*3493T>C),
49570523(c.*3892G>A),
49570731(c.*4100T>C),
49571084(c.*4453T>C),
49571220(c.*4589G>A),
49571499(c.*4868T>C),
49571582(c.*4951T>C),
49571686(c.*5055A>G),
49571856(c.*5225T>G),
49572014(c.*5383G>T),
49572088(c.*5457T>C),
49572092(c.*5461G>A),
49572246(c.*5615C>T),
49572424(c.*5793A>T),
49572479(c.*5848T>C),
|
|---|
| Insertions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
-
+1kb
|
|---|
| Deletions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
49545781 (c.-24+1083_-24+1086delCTGA),
49551984 (c.253+70delA),
49552161 (c.253+246delT),
49553807 (c.254-112_254-111delTA),
49558250 (c.581-540delC),
49559226 (c.691+326_691+328delCTT),
49559899 (c.691+1002delC),
49561831 (c.692-1608_692-1605delATCA),
49562357 (c.692-1079_692-1076delTCAA),
49563638 (c.785+105delA),
49563695 (c.786-58_786-54delAAGGT),
49566231 (c.925-201delA),
-
+1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 2 |
|---|
| non-synonymous num | 1 |
|---|
| synonymous substitutions |
49551738 (p.Ala25Ala),
49557444 (p.Asn188Asn),
|
|---|
| non-synonymous substitutions |
49553938 (p.Asn91Ser),
|
|---|
B6 transcript
(ENSMUST00000021820)
|
MKEYVMLLLLAVCSAKPFFSPSHTALKNMMLKDMEDTDDDDNDDDDNSLFPTKEPVNPFF
PFDLFPTCPFGCQCYSRVVHCSDLGLTSVPNNIPFDTRMVDLQNNKIKEIKENDFKGLTS
LYALILNNNKLTKIHPKTFLTTKKLRRLYLSHNQLSEIPLNLPKSLAELRIHDNKVKKIQ
KDTFKGMNALHVLEMSANPLENNGIEPGAFEGVTVFHIRIAEAKLTSIPKGLPPTLLELH
LDFNKISTVELEDLKRYRELQRLGLGNNRITDIENGTFANIPRVREIHLEHNKLKKIPSG
LQELKYLQIIFLHYNSIAKVGVNDFCPTVPKMKKSLYSAISLFNNPMKYWEIQPATFRCV
LGRMSVQLGNVGK*
|
|
MSMv4 transcript
|
MKEYVMLLLLAVCSAKPFFSPSHTALKNMMLKDMEDTDDDDNDDDDNSLFPTKEPVNPFF
PFDLFPTCPFGCQCYSRVVHCSDLGLTSVPSNIPFDTRMVDLQNNKIKEIKENDFKGLTS
LYALILNNNKLTKIHPKTFLTTKKLRRLYLSHNQLSEIPLNLPKSLAELRIHDNKVKKIQ
KDTFKGMNALHVLEMSANPLENNGIEPGAFEGVTVFHIRIAEAKLTSIPKGLPPTLLELH
LDFNKISTVELEDLKRYRELQRLGLGNNRITDIENGTFANIPRVREIHLEHNKLKKIPSG
LQELKYLQIIFLHYNSIAKVGVNDFCPTVPKMKKSLYSAISLFNNPMKYWEIQPATFRCV
LGRMSVQLGNVGK*
|
| homology | 99.73 (374 / 374) |
|---|
|
