Reports |
substitution |
cSNPs | 8 |
Insertion | 7 |
Deletion | 16 |
SNPs |
+1kb
90476064(c.-89C>T),
90476111(c.-136C>T),
90476179(c.-204G>A),
90476341(c.-366C>T),
90476382(c.-407A>G),
90476425(c.-450T>G),
90476486(c.-511T>G),
90476504(c.-529G>A),
90476996(c.-1021A>G),
90477123(c.-1148A>G),
90477473(c.-1498T>A),
90477577(c.-1602T>C),
90477580(c.-1605T>G),
90477721(c.-1746T>C),
90478083(c.-2108C>T),
90478109(c.-2134C>T),
90478219(c.-2244A>G),
90478307(c.-2332A>T),
90478492(c.-2517T>C),
90478568(c.-2593A>G),
90478626(c.-2651A>G),
90478663(c.-2688G>T),
90479729(c.-3754G>A),
90479785(c.-3810A>T),
90480136(c.-4161T>C),
90480247(c.-4272C>A),
90480277(c.-4302A>G),
90480924(c.-4949C>T),
90480973(c.-4998G>A),
5'UTR
CDS
3'UTR
90468270(c.*708T>G),
90468382(c.*596A>G),
90468394(c.*584A>G),
90468470(c.*508C>T),
90468536(c.*442C>A),
90468728(c.*250A>G),
90468730(c.*248T>A),
90468748(c.*230A>G),
90468781(c.*197A>G),
90468929(c.*49C>G),
90468959(c.*19C>T),
90468960(c.*18T>G),
INTRON
90469250(c.510-89T>A),
90469253(c.510-92A>G),
90469282(c.510-121G>T),
90469283(c.510-122T>C),
90469395(c.509+175G>A),
90469466(c.509+104A>G),
90469757(c.398-76T>G),
90469777(c.398-96C>T),
90469779(c.398-98G>A),
90469801(c.398-120A>T),
90469876(c.398-195T>A),
90469888(c.398-207A>G),
90469889(c.398-208G>A),
90469963(c.398-282G>A),
90470051(c.398-370C>T),
90470112(c.398-431G>A),
90470128(c.398-447A>G),
90470155(c.398-474G>A),
90470318(c.397+447G>C),
90470383(c.397+382A>T),
90470540(c.397+225C>A),
90470577(c.397+188A>G),
90470586(c.397+179T>G),
90471147(c.204-189C>T),
90471263(c.204-305T>C),
90471280(c.204-322A>G),
90471321(c.204-363G>A),
90471426(c.204-468G>T),
90471436(c.204-478T>G),
90471463(c.204-505C>T),
90471464(c.204-506G>T),
90471466(c.204-508T>C),
90471497(c.204-539G>A),
90471545(c.204-587T>C),
90471560(c.204-602G>T),
90471574(c.204-616C>A),
90471603(c.204-645C>A),
90471620(c.204-662C>T),
90471672(c.204-714G>C),
90471696(c.204-738T>C),
90471910(c.203+688C>T),
90471939(c.203+659A>G),
90472166(c.203+432G>A),
90472261(c.203+337A>T),
90472303(c.203+295T>C),
90472314(c.203+284G>C),
90472491(c.203+107G>A),
90472512(c.203+86T>C),
90473342(c.82-623G>A),
90473439(c.82-720C>G),
90473625(c.82-906C>A),
90473650(c.82-931G>A),
90473774(c.82-1055G>A),
90473812(c.82-1093T>G),
90473902(c.82-1183A>G),
90474023(c.82-1304G>C),
90474382(c.81+1513A>G),
90474416(c.81+1479T>C),
90474470(c.81+1425T>C),
90474575(c.81+1320A>G),
90475412(c.81+483A>G),
90475545(c.81+350C>A),
90475603(c.81+292A>C),
90475622(c.81+273A>T),
90475636(c.81+259A>C),
90475666(c.81+229C>T),
-1kb
|
Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
90469488 (c.509+74_509+81delCCACCTCC),
90470421 (c.397+343delG),
90471507 (c.204-557_204-550delGAAACCCA),
90471758 (c.204-804_204-801delGCAA),
90473008 (c.82-290delG),
90473597 (c.82-879delT),
90473785 (c.82-1070_82-1067delGTGG),
90474626 (c.81+1268delT),
90474820 (c.81+1073_81+1074delAA),
90475157 (c.81+731_81+737delATGCCAG),
90475228 (c.81+662_81+666delCAAAA),
-1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 4 |
non-synonymous num | 4 |
synonymous substitutions |
90469044 (p.Ala209Ala),
90469047 (p.Gly208Gly),
90469077 (p.Ala198Ala),
90469626 (p.Cys151Cys),
|
non-synonymous substitutions |
90468994 (p.Leu226Pro),
90469007 (p.Pro222Thr),
90469019 (p.Ile218Val),
90469582 (p.Arg166His),
|
B6 transcript
(ENSMUST00000032843)
|
MAASQRPSWSESKVAGVVQEGNREAPQDIKMALYKHGQLIPSLGDAKFRSPIISEIIEKK
FEHYRNDKTLNIHGTLVFGTSSSLSGIMANLVFRNSFKVKYEALKTYASLTTLPVLATIV
SYKLFVTDALQSGDISKESCVLRSALIGMACGVSYPSALAFYKNGRLAVKYQTVPLPPKG
RVMLHWLLLCQTGMKAMAIPLFFQIVMGAFTGLHHYNICEKPRARLVPDD*
|
MSMv4 transcript
|
MAASQRPSWSESKVAGVVQEGNREAPQDIKMALYKHGQLIPSLGDAKFRSPIISEIIEKK
FEHYRNDKTLNIHGTLVFGTSSSLSGIMANLVFRNSFKVKYEALKTYASLTTLPVLATIV
SYKLFVTDALQSGDISKESCVLRSALIGMACGVSYPSALAFYKNGHLAVKYQTVPLPPKG
RVMLHWLLLCQTGMKAMAIPLFFQIVMGAFTGLHHYNVCEKTRARPVPDD*
|
homology | 98.27 (231 / 231) |
|