| Reports |
| substitution |
| cSNPs | 5 |
| Insertion | 14 |
| Deletion | 19 |
| SNPs |
+1kb
49249311(c.-841A>G),
49249864(c.-1394G>A),
49250629(c.-2159T>G),
49250686(c.-2216T>C),
49250698(c.-2228A>G),
49250752(c.-2282T>A),
49250972(c.-2502G>T),
49251054(c.-2584G>T),
49251140(c.-2670A>G),
49251551(c.-3081A>G),
49251653(c.-3183G>A),
49251718(c.-3248C>G),
49251769(c.-3299A>G),
49251808(c.-3338G>T),
49251828(c.-3358G>A),
49252700(c.-4230G>A),
49252714(c.-4244A>C),
49252753(c.-4283A>T),
49252972(c.-4502G>A),
49253040(c.-4570G>T),
49253053(c.-4583C>T),
49253139(c.-4669C>T),
49253157(c.-4687G>A),
49253195(c.-4725T>G),
49253529(c.-5059G>T),
49253582(c.-5112A>G),
5'UTR
CDS
3'UTR
INTRON
49231622(c.579-291A>T),
49231977(c.579-646G>C),
49232391(c.579-1060A>G),
49232516(c.579-1185T>C),
49232521(c.579-1190C>A),
49232556(c.579-1225A>G),
49232562(c.579-1231A>G),
49232731(c.579-1400C>G),
49232740(c.579-1409A>G),
49233019(c.579-1688A>G),
49233022(c.579-1691G>A),
49233092(c.579-1761C>T),
49233177(c.579-1846T>C),
49233254(c.579-1923T>G),
49233277(c.579-1946G>A),
49233284(c.579-1953G>A),
49233312(c.579-1981G>A),
49233422(c.579-2091G>A),
49233612(c.579-2281A>G),
49233695(c.579-2364G>C),
49233699(c.579-2368C>T),
49233848(c.579-2517C>T),
49234009(c.579-2678C>T),
49234046(c.579-2715G>A),
49234131(c.579-2800G>A),
49234245(c.579-2914A>T),
49234271(c.579-2940C>T),
49234372(c.579-3041T>A),
49234505(c.578+2919C>G),
49234509(c.578+2915A>G),
49234568(c.578+2856A>G),
49234598(c.578+2826C>T),
49234637(c.578+2787G>A),
49234647(c.578+2777G>T),
49234977(c.578+2447T>C),
49235220(c.578+2204A>G),
49235266(c.578+2158C>T),
49235450(c.578+1974A>G),
49236045(c.578+1379C>T),
49236346(c.578+1078C>T),
49236394(c.578+1030G>A),
49236395(c.578+1029T>C),
49237702(c.390-90C>T),
49237736(c.390-124A>G),
49237741(c.390-129C>T),
49237801(c.390-189C>T),
49237868(c.390-256G>A),
49238125(c.390-513G>T),
49238168(c.390-556C>T),
49238528(c.389+261T>C),
49238589(c.389+200G>T),
49238612(c.389+177G>A),
49238633(c.389+156C>T),
49238956(c.242-20G>T),
49239037(c.242-101C>T),
49239039(c.242-103G>A),
49239133(c.242-197C>T),
49239165(c.242-229A>G),
49239215(c.242-279T>C),
49239651(c.242-715A>G),
49239658(c.242-722G>C),
49239717(c.241+766C>A),
49239777(c.241+706G>A),
49239796(c.241+687A>G),
49239820(c.241+663C>T),
49239863(c.241+620A>C),
49239869(c.241+614A>G),
49239938(c.241+545A>G),
49240110(c.241+373T>G),
49240291(c.241+192C>T),
49240312(c.241+171C>G),
49240329(c.241+154C>T),
49240747(c.53-76T>G),
49240866(c.53-195T>A),
49240885(c.53-214T>C),
49241110(c.53-439A>C),
49241115(c.53-444G>A),
49241138(c.53-467T>C),
49241153(c.53-482G>A),
49241232(c.53-561G>A),
49241261(c.53-590T>A),
49241309(c.53-638C>A),
49241371(c.53-700C>G),
49241438(c.53-767A>G),
49241454(c.53-783T>C),
49241517(c.53-846G>T),
49241547(c.53-876A>T),
49241573(c.53-902C>T),
49241707(c.53-1036C>T),
49241738(c.53-1067T>C),
49241828(c.53-1157C>T),
49241863(c.53-1192G>T),
49241885(c.53-1214G>A),
49242046(c.53-1375G>A),
49242076(c.53-1405A>G),
49242136(c.53-1465T>C),
49242173(c.53-1502C>T),
49242189(c.53-1518G>A),
49242503(c.53-1832G>A),
49242538(c.53-1867A>G),
49242832(c.53-2161T>C),
49242954(c.53-2283G>A),
49243137(c.53-2466T>C),
49243151(c.53-2480A>G),
49243386(c.53-2715C>T),
49243636(c.53-2965A>G),
49244545(c.52+3874A>G),
49244992(c.52+3427G>A),
49244998(c.52+3421A>G),
49245281(c.52+3138G>A),
49245323(c.52+3096T>C),
49245579(c.52+2840C>A),
49245912(c.52+2507G>A),
49246075(c.52+2344G>A),
49246102(c.52+2317A>G),
49246173(c.52+2246G>A),
49246209(c.52+2210T>C),
49246332(c.52+2087A>G),
49246483(c.52+1936G>A),
49246609(c.52+1810G>T),
49246705(c.52+1714T>C),
49246837(c.52+1582T>G),
49247003(c.52+1416G>A),
49247054(c.52+1365G>A),
49247081(c.52+1338C>G),
49247293(c.52+1126G>T),
49248390(c.52+29A>C),
-1kb
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.578+2609delT),
49235096 (c.578+2326_578+2327delCA),
49237905 (c.390-299_390-294delTTTTTT),
49239080 (c.242-148_242-145delAATA),
49241535 (c.53-866_53-865delCT),
49241853 (c.53-1190_53-1183delGGGGTGGG),
49243115 (c.53-2453_53-2445delCCCCCCCCC),
49244105 (c.53-3440_53-3435delGTGTGT),
49245047 (c.52+3364_52+3371delAAACAAAC),
49245078 (c.52+3337_52+3340delCACT),
49245829 (c.52+2588_52+2589delGA),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 3 |
| non-synonymous num | 2 |
| synonymous substitutions |
49237603 (p.Gln133Gln),
49238812 (p.Lys122Lys),
49238818 (p.Val120Val),
|
| non-synonymous substitutions |
49231198 (p.Leu238Met),
49240515 (p.Val70Ala),
|
B6 transcript
(ENSMUST00000021816)
|
MRRLSLSKVTCLALESKGTCAQLHPPPQGTLQVVRGDGTSLGTVLIFHCPSGHQMVGSGL
LTCAWNGSTVDWSSGSPVCKAVPPHETFGFKVAVIASIVSCAIILLMSMAFLTCCLLKCV
QKNERRRADRTAQLWYQLRGEDLETVQAAYLGLKGHNHNNSSSVGGGNGGPSGGGGKPGI
QHSQAHDNHSFTTDPGDIREQAGVTHSVDKDPWTFRMGTPGPGGCSSSPGTYVMVHALNS
AGLAPGNPGRPKVYLPG*
|
|
MSMv4 transcript
|
MRRLSLSKVTCLALESKGTCAQLHPPPQGTLQVVRGDGTSLGTVLIFHCPSGHQMVGSGL
LTCAWNGSTADWSSGSPVCKAVPPHETFGFKVAVIASIVSCAIILLMSMAFLTCCLLKCV
QKNERRRADRTAQLWYQLRGEDLETVQAAYLGLKGHNHNNSSSVGGGNGGPSGGGGKPGI
QHSQAHDNHSFTTDPGDIREQAGVTHSVDKDPWTFRMGTPGPGGCSSSPGTYVMVHAMNS
AGLAPGNPGRPKVYLPG*
|
| homology | 99.22 (258 / 258) |
|