| Reports |
| substitution |
| cSNPs | 5 |
| Insertion | 13 |
| Deletion | 18 |
| SNPs |
+1kb
49248390(c.-258A>C),
49249311(c.-1179A>G),
49249864(c.-1732G>A),
49250629(c.-2497T>G),
49250686(c.-2554T>C),
49250698(c.-2566A>G),
49250752(c.-2620T>A),
49250972(c.-2840G>T),
49251054(c.-2922G>T),
49251140(c.-3008A>G),
49251551(c.-3419A>G),
49251653(c.-3521G>A),
49251718(c.-3586C>G),
49251769(c.-3637A>G),
49251808(c.-3676G>T),
49251828(c.-3696G>A),
49252700(c.-4568G>A),
49252714(c.-4582A>C),
49252753(c.-4621A>T),
49252972(c.-4840G>A),
49253040(c.-4908G>T),
49253053(c.-4921C>T),
49253139(c.-5007C>T),
49253157(c.-5025G>A),
49253195(c.-5063T>G),
5'UTR
CDS
3'UTR
INTRON
49231622(c.615-291A>T),
49231977(c.615-646G>C),
49232391(c.615-1060A>G),
49232516(c.615-1185T>C),
49232521(c.615-1190C>A),
49232556(c.615-1225A>G),
49232562(c.615-1231A>G),
49232731(c.615-1400C>G),
49232740(c.615-1409A>G),
49233019(c.615-1688A>G),
49233022(c.615-1691G>A),
49233092(c.615-1761C>T),
49233177(c.615-1846T>C),
49233254(c.615-1923T>G),
49233277(c.615-1946G>A),
49233284(c.615-1953G>A),
49233312(c.615-1981G>A),
49233422(c.615-2091G>A),
49233612(c.615-2281A>G),
49233695(c.615-2364G>C),
49233699(c.615-2368C>T),
49233848(c.615-2517C>T),
49234009(c.615-2678C>T),
49234046(c.615-2715G>A),
49234131(c.615-2800G>A),
49234245(c.615-2914A>T),
49234271(c.615-2940C>T),
49234372(c.615-3041T>A),
49234505(c.614+2919C>G),
49234509(c.614+2915A>G),
49234568(c.614+2856A>G),
49234598(c.614+2826C>T),
49234637(c.614+2787G>A),
49234647(c.614+2777G>T),
49234977(c.614+2447T>C),
49235220(c.614+2204A>G),
49235266(c.614+2158C>T),
49235450(c.614+1974A>G),
49236045(c.614+1379C>T),
49236346(c.614+1078C>T),
49236394(c.614+1030G>A),
49236395(c.614+1029T>C),
49237702(c.426-90C>T),
49237736(c.426-124A>G),
49237741(c.426-129C>T),
49237801(c.426-189C>T),
49237868(c.426-256G>A),
49238125(c.426-513G>T),
49238168(c.426-556C>T),
49238528(c.425+261T>C),
49238589(c.425+200G>T),
49238612(c.425+177G>A),
49238633(c.425+156C>T),
49238956(c.278-20G>T),
49239037(c.278-101C>T),
49239039(c.278-103G>A),
49239133(c.278-197C>T),
49239165(c.278-229A>G),
49239215(c.278-279T>C),
49239651(c.278-715A>G),
49239658(c.278-722G>C),
49239717(c.277+766C>A),
49239777(c.277+706G>A),
49239796(c.277+687A>G),
49239820(c.277+663C>T),
49239863(c.277+620A>C),
49239869(c.277+614A>G),
49239938(c.277+545A>G),
49240110(c.277+373T>G),
49240291(c.277+192C>T),
49240312(c.277+171C>G),
49240329(c.277+154C>T),
49240747(c.89-76T>G),
49240866(c.89-195T>A),
49240885(c.89-214T>C),
49241110(c.89-439A>C),
49241115(c.89-444G>A),
49241138(c.89-467T>C),
49241153(c.89-482G>A),
49241232(c.89-561G>A),
49241261(c.89-590T>A),
49241309(c.89-638C>A),
49241371(c.89-700C>G),
49241438(c.89-767A>G),
49241454(c.89-783T>C),
49241517(c.89-846G>T),
49241547(c.89-876A>T),
49241573(c.89-902C>T),
49241707(c.89-1036C>T),
49241738(c.89-1067T>C),
49241828(c.89-1157C>T),
49241863(c.89-1192G>T),
49241885(c.89-1214G>A),
49242046(c.89-1375G>A),
49242076(c.89-1405A>G),
49242136(c.89-1465T>C),
49242173(c.89-1502C>T),
49242189(c.89-1518G>A),
49242503(c.89-1832G>A),
49242538(c.89-1867A>G),
49242832(c.89-2161T>C),
49242954(c.89-2283G>A),
49243137(c.89-2466T>C),
49243151(c.89-2480A>G),
49243386(c.89-2715C>T),
49243636(c.89-2965A>G),
49244545(c.88+3500A>G),
49244992(c.88+3053G>A),
49244998(c.88+3047A>G),
49245281(c.88+2764G>A),
49245323(c.88+2722T>C),
49245579(c.88+2466C>A),
49245912(c.88+2133G>A),
49246075(c.88+1970G>A),
49246102(c.88+1943A>G),
49246173(c.88+1872G>A),
49246209(c.88+1836T>C),
49246332(c.88+1713A>G),
49246483(c.88+1562G>A),
49246609(c.88+1436G>T),
49246705(c.88+1340T>C),
49246837(c.88+1208T>G),
49247003(c.88+1042G>A),
49247054(c.88+991G>A),
49247081(c.88+964C>G),
49247293(c.88+752G>T),
-1kb
49225804(c.*5332T>A),
49225822(c.*5314G>A),
49225824(c.*5312A>G),
49225838(c.*5298G>T),
49225859(c.*5277T>A),
49225900(c.*5236A>C),
49226194(c.*4942C>T),
49226290(c.*4846A>T),
49226305(c.*4831C>T),
49226478(c.*4658C>T),
49226486(c.*4650C>T),
49226531(c.*4605G>T),
49226537(c.*4599G>A),
49226575(c.*4561T>C),
49226584(c.*4552A>G),
49226663(c.*4473C>T),
49226757(c.*4379A>G),
49226875(c.*4261C>T),
49227002(c.*4134G>T),
49227024(c.*4112A>G),
49227052(c.*4084A>C),
49227105(c.*4031G>A),
49227107(c.*4029C>T),
49227339(c.*3797G>A),
49227350(c.*3786C>T),
49227358(c.*3778G>A),
49227434(c.*3702C>T),
49227574(c.*3562C>T),
49227641(c.*3495C>A),
49228066(c.*3070A>G),
49228153(c.*2983C>T),
49228158(c.*2978A>T),
49228264(c.*2872A>T),
49228268(c.*2868A>G),
49228270(c.*2866A>G),
49228272(c.*2864A>G),
49228274(c.*2862A>G),
49228553(c.*2583C>A),
49228562(c.*2574T>C),
49229163(c.*1973A>G),
49229184(c.*1952G>A),
49229492(c.*1644G>A),
49230094(c.*1042T>C),
49230118(c.*1018G>A),
49230188(c.*948T>C),
49230245(c.*891G>T),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
49234814 (c.614+2609delT),
49235096 (c.614+2326_614+2327delCA),
49237905 (c.426-299_426-294delTTTTTT),
49239080 (c.278-148_278-145delAATA),
49241535 (c.89-866_89-865delCT),
49241853 (c.89-1190_89-1183delGGGGTGGG),
49243115 (c.89-2453_89-2445delCCCCCCCCC),
49244105 (c.89-3440_89-3435delGTGTGT),
49245047 (c.88+2990_88+2997delAAACAAAC),
49245078 (c.88+2963_88+2966delCACT),
49245829 (c.88+2214_88+2215delGA),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 3 |
| non-synonymous num | 2 |
| synonymous substitutions |
49237603 (p.Gln145Gln),
49238812 (p.Lys134Lys),
49238818 (p.Val132Val),
|
| non-synonymous substitutions |
49231198 (p.Leu250Met),
49240515 (p.Val82Ala),
|
B6 transcript
(ENSMUST00000058196)
|
MRRTSATLRGRARPRWRAGNTTPVPVNQTGTCAQLHPPPQGTLQVVRGDGTSLGTVLIFH
CPSGHQMVGSGLLTCAWNGSTVDWSSGSPVCKAVPPHETFGFKVAVIASIVSCAIILLMS
MAFLTCCLLKCVQKNERRRADRTAQLWYQLRGEDLETVQAAYLGLKGHNHNNSSSVGGGN
GGPSGGGGKPGIQHSQAHDNHSFTTDPGDIREQAGVTHSVDKDPWTFRMGTPGPGGCSSS
PGTYVMVHALNSAGLAPGNPGRPKVYLPG*
|
|
MSMv4 transcript
|
MRRTSATLRGRARPRWRAGNTTPVPVNQTGTCAQLHPPPQGTLQVVRGDGTSLGTVLIFH
CPSGHQMVGSGLLTCAWNGSTADWSSGSPVCKAVPPHETFGFKVAVIASIVSCAIILLMS
MAFLTCCLLKCVQKNERRRADRTAQLWYQLRGEDLETVQAAYLGLKGHNHNNSSSVGGGN
GGPSGGGGKPGIQHSQAHDNHSFTTDPGDIREQAGVTHSVDKDPWTFRMGTPGPGGCSSS
PGTYVMVHAMNSAGLAPGNPGRPKVYLPG*
|
| homology | 99.26 (270 / 270) |
|