| Reports |
| substitution |
| cSNPs | 8 |
| Insertion | 14 |
| Deletion | 14 |
| SNPs |
-1kb
36507014(c.-4897G>A),
36507502(c.-4409G>A),
36508500(c.-3411T>C),
36509052(c.-2859A>G),
36509065(c.-2846C>T),
36509300(c.-2611A>G),
36509873(c.-2038G>A),
36509883(c.-2028A>G),
36509914(c.-1997C>T),
36510210(c.-1701G>A),
36511200(c.-711A>G),
36511214(c.-697T>C),
36511385(c.-526G>C),
36511712(c.-199G>C),
5'UTR
CDS
3'UTR
36525267(c.*37G>T),
36525431(c.*201G>A),
36525473(c.*243G>A),
36525532(c.*302G>A),
36525550(c.*320G>T),
36526107(c.*877G>A),
36526137(c.*907C>T),
36526144(c.*914T>C),
36526290(c.*1060A>G),
36526331(c.*1101C>T),
36526356(c.*1126A>G),
36526363(c.*1133A>G),
36526368(c.*1138G>A),
36526471(c.*1241G>C),
36526493(c.*1263G>A),
36526605(c.*1375C>A),
36526677(c.*1447C>T),
36526888(c.*1658A>G),
36526914(c.*1684G>A),
36526994(c.*1764T>C),
36527067(c.*1837T>C),
36527176(c.*1946T>G),
36527375(c.*2145G>C),
36527616(c.*2386T>C),
36527656(c.*2426G>A),
36527942(c.*2712C>A),
INTRON
36513324(c.1243+171A>T),
36513569(c.1243+416C>T),
36513668(c.1243+515A>G),
36513995(c.1243+842T>C),
36514377(c.1243+1224G>A),
36514434(c.1243+1281C>T),
36514676(c.1243+1523A>G),
36514691(c.1243+1538A>G),
36514860(c.1243+1707A>G),
36515019(c.1243+1866A>G),
36515033(c.1243+1880A>G),
36515135(c.1243+1982G>A),
36515137(c.1243+1984A>T),
36515262(c.1243+2109G>A),
36515618(c.1243+2465G>A),
36515713(c.1243+2560T>C),
36515927(c.1243+2774A>G),
36515928(c.1243+2775C>G),
36515962(c.1243+2809A>G),
36515964(c.1243+2811A>G),
36516277(c.1244-2675G>A),
36516368(c.1244-2584A>T),
36517471(c.1244-1481A>C),
36517531(c.1244-1421T>C),
36517541(c.1244-1411A>G),
36517543(c.1244-1409C>T),
36517774(c.1244-1178A>G),
36517775(c.1244-1177A>G),
36517820(c.1244-1132G>A),
36517884(c.1244-1068A>G),
36518092(c.1244-860T>C),
36518459(c.1244-493C>T),
36518461(c.1244-491C>T),
36518492(c.1244-460C>T),
36518821(c.1244-131C>T),
36519108(c.1387+13G>T),
36519122(c.1387+27C>T),
36519214(c.1387+119A>T),
36519247(c.1387+152C>T),
36519272(c.1387+177C>T),
36519496(c.1387+401G>A),
36519732(c.1388-346A>C),
36519756(c.1388-322T>C),
36519890(c.1388-188A>G),
36520012(c.1388-66G>A),
36520052(c.1388-26T>C),
36520750(c.1707+62G>A),
36520777(c.1708-42A>G),
36520795(c.1708-24T>C),
36521455(c.1938+117C>T),
36521522(c.1939-179C>T),
36521595(c.1939-106C>T),
36521658(c.1939-43A>G),
36521659(c.1939-42G>A),
36521896(c.2077+57C>T),
36521897(c.2077+58A>G),
36521959(c.2077+120T>A),
36521982(c.2077+143T>C),
36522052(c.2077+213A>G),
36522228(c.2077+389G>A),
36522383(c.2077+544C>A),
36522396(c.2077+557A>G),
36523239(c.2077+1400G>A),
36523288(c.2077+1449T>C),
36523579(c.2078-1587T>C),
36523966(c.2078-1200G>A),
36524071(c.2078-1095A>G),
36524154(c.2078-1012C>T),
36524419(c.2078-747T>C),
36524710(c.2078-456G>T),
36524778(c.2078-388G>A),
36525115(c.2078-51A>C),
36525153(c.2078-13T>C),
+1kb
36528382(c.*3152T>G),
36528448(c.*3218G>A),
36528983(c.*3753A>C),
36529009(c.*3779G>C),
36529056(c.*3826C>T),
36529286(c.*4056A>T),
36529359(c.*4129T>G),
36529748(c.*4518T>C),
36529829(c.*4599G>A),
36529830(c.*4600G>A),
36529997(c.*4767A>G),
36530068(c.*4838T>C),
36530353(c.*5123A>G),
36530667(c.*5437T>C),
36530756(c.*5526G>T),
36530817(c.*5587C>T),
36531032(c.*5802T>C),
36531071(c.*5841G>A),
36531186(c.*5956G>A),
36531224(c.*5994T>G),
36531230(c.*6000T>C),
36531369(c.*6139G>T),
36531433(c.*6203T>C),
36531661(c.*6431A>G),
36531664(c.*6434A>G),
36531714(c.*6484A>G),
36532095(c.*6865G>A),
36532257(c.*7027G>A),
36532724(c.*7494T>G),
36532841(c.*7611C>A),
36533071(c.*7841C>T),
36533187(c.*7957G>A),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 5 |
| non-synonymous num | 3 |
| synonymous substitutions |
36512529 (p.Leu207Leu),
36512888 (p.Pro326Pro),
36512918 (p.Gly336Gly),
36513086 (p.Tyr392Tyr),
36518995 (p.Gly429Gly),
|
| non-synonymous substitutions |
36512023 (p.Asn38Ser),
36512043 (p.Ser45Gly),
36512536 (p.Ser209Asn),
|
B6 transcript
(ENSMUST00000001166)
|
MAAAAAAVVGWLGWVLAAFCLGSTAGEAAPAPGAGLLNFCTEEDSAPGAGSLRGRAAPEA
TLCLRLFCSGLANSSWTWVAAEGAGCPEGGRATEPEEAAAPTGEWRALLRLRAEAGHPRS
ALLAVRVEPGGGAAEEAAPPWALGLGAAGLLALAAVARGLQLSALALAPAEVQVLRESGS
EAERAAARRLEPARRWAGCALGALLLLASLAQAALAVLLYGAAGQRAVPAVLGCAGLVFL
VGEVLPAAVSGRWALALAPRALGLSRLAVLLTLPVALPVGQLLELAARPGRLRERVLELA
RGGGDPYSDLSKGVLRSRTVEDVLTPLEDCFMLDSGTVLDFSVLASIMQSGHTRIPVYEE
ERSNIVDMLYLKDLAIVEPEDCTPLSTITRFYNHPLHFVFNDTKLDAVLEEFKRGKSHLA
IVQKVNNEGEGDPFYEVLGLVTLEDVIEEIIKSEILDESEDYSDTKVRKKTVALGAPLKR
KEEFSLFKVSDDEYKVKISPQLLLATQRFLSREVDVFSPLRVSEKVLLHLLKHPSVNQEV
TFDESNRLAAHHYLYQRSQPVDYFILILQGRVEVEIGKEGLKFENGAFTYYGVSALTAPS
SAHQSPVSSRQLIRHDVQPEPADGTRSCTYCPDYTVRALSDLQLIKVTRLQYLNALLATR
AQSLPPSPENAELQAIPGSQTRLLGDKSRETAGSTNSRPSIPVEESPGRNPGV*
|
|
MSMv4 transcript
|
MAAAAAAVVGWLGWVLAAFCLGSTAGEAAPAPGAGLLSFCTEEDGAPGAGSLRGRAAPEA
TLCLRLFCSGLANSSWTWVAAEGAGCPEGGRATEPEEAAAPTGEWRALLRLRAEAGHPRS
ALLAVRVEPGGGAAEEAAPPWALGLGAAGLLALAAVARGLQLSALALAPAEVQVLRESGS
EAERAAARRLEPARRWAGCALGALLLLANLAQAALAVLLYGAAGQRAVPAVLGCAGLVFL
VGEVLPAAVSGRWALALAPRALGLSRLAVLLTLPVALPVGQLLELAARPGRLRERVLELA
RGGGDPYSDLSKGVLRSRTVEDVLTPLEDCFMLDSGTVLDFSVLASIMQSGHTRIPVYEE
ERSNIVDMLYLKDLAIVEPEDCTPLSTITRFYNHPLHFVFNDTKLDAVLEEFKRGKSHLA
IVQKVNNEGEGDPFYEVLGLVTLEDVIEEIIKSEILDESEDYSDTKVRKKTVALGAPLKR
KEEFSLFKVSDDEYKVKISPQLLLATQRFLSREVDVFSPLRVSEKVLLHLLKHPSVNQEV
TFDESNRLAAHHYLYQRSQPVDYFILILQGRVEVEIGKEGLKFENGAFTYYGVSALTAPS
SAHQSPVSSRQLIRHDVQPEPADGTRSCTYCPDYTVRALSDLQLIKVTRLQYLNALLATR
AQSLPPSPENAELQAIPGSQTRLLGDKSRETAGSTNSRPSIPVEESPGRNPGV*
|
| homology | 99.58 (714 / 714) |
|