| Reports |
| substitution |
| cSNPs | 4 |
| Insertion | 17 |
| Deletion | 26 |
| SNPs |
+1kb
44118837(c.-338C>T),
44118996(c.-497G>A),
44119126(c.-627T>C),
44119897(c.-1398G>A),
44119932(c.-1433A>T),
44120077(c.-1578G>A),
44120088(c.-1589T>C),
44120123(c.-1624T>C),
44120126(c.-1627T>C),
44120298(c.-1799C>T),
44120405(c.-1906A>G),
44120413(c.-1914T>C),
44120470(c.-1971A>T),
44120503(c.-2004G>C),
44120507(c.-2008T>A),
44120522(c.-2023C>T),
44120531(c.-2032A>G),
44120579(c.-2080C>T),
44120757(c.-2258A>G),
44120762(c.-2263T>C),
44120814(c.-2315C>T),
44121010(c.-2511T>C),
44121175(c.-2676C>G),
44121199(c.-2700G>T),
44121344(c.-2845C>T),
44121430(c.-2931G>A),
44121511(c.-3012G>A),
44121571(c.-3072A>G),
44121870(c.-3371G>A),
44121927(c.-3428G>C),
44121987(c.-3488C>T),
44122101(c.-3602C>T),
44122155(c.-3656G>A),
44122213(c.-3714C>T),
44122232(c.-3733T>C),
44122424(c.-3925G>A),
44122457(c.-3958C>G),
44122462(c.-3963C>T),
44122481(c.-3982C>T),
44122526(c.-4027A>T),
44122576(c.-4077A>G),
44122596(c.-4097A>G),
44122610(c.-4111A>G),
44122894(c.-4395A>T),
44123345(c.-4846G>A),
44123399(c.-4900T>A),
44123485(c.-4986G>A),
44123670(c.-5171T>C),
5'UTR
CDS
3'UTR
INTRON
44107279(c.1492-175C>T),
44107304(c.1492-200A>G),
44107324(c.1492-220C>T),
44107446(c.1491+319G>C),
44108338(c.1384-466T>C),
44108642(c.1384-770T>C),
44108695(c.1384-823A>T),
44108752(c.1384-880T>C),
44108932(c.1384-1060G>A),
44109123(c.1383+871A>G),
44109128(c.1383+866A>G),
44109192(c.1383+802G>T),
44109451(c.1383+543C>T),
44109466(c.1383+528C>T),
44109749(c.1383+245T>C),
44109789(c.1383+205A>G),
44109801(c.1383+193G>A),
44109835(c.1383+159A>G),
44109872(c.1383+122G>A),
44109881(c.1383+113G>A),
44109895(c.1383+99T>G),
44109901(c.1383+93T>G),
44110148(c.1294-65G>C),
44110253(c.1294-170A>G),
44110268(c.1294-185C>A),
44110382(c.1294-299A>G),
44110422(c.1293+313A>T),
44110490(c.1293+245T>C),
44110500(c.1293+235G>A),
44110527(c.1293+208T>C),
44110637(c.1293+98T>C),
44110640(c.1293+95C>A),
44110690(c.1293+45G>C),
44110699(c.1293+36A>T),
44110724(c.1293+11C>T),
44111037(c.1084-93G>T),
44111173(c.1084-229A>G),
44111174(c.1084-230A>T),
44111231(c.1084-287G>T),
44111311(c.1084-367A>G),
44111769(c.1084-825G>A),
44111811(c.1083+834G>A),
44112041(c.1083+604G>A),
44112189(c.1083+456G>A),
44112301(c.1083+344A>G),
44112302(c.1083+343C>A),
44112338(c.1083+307C>T),
44112345(c.1083+300C>T),
44112539(c.1083+106T>C),
44113282(c.673-107G>A),
44113368(c.673-193T>C),
44113467(c.673-292T>G),
44113497(c.673-322G>A),
44113615(c.673-440A>G),
44113620(c.673-445T>A),
44113626(c.673-451T>C),
44113985(c.672+456A>G),
44114100(c.672+341T>G),
44114154(c.672+287C>T),
44114167(c.672+274G>C),
44114216(c.672+225A>T),
44114226(c.672+215C>T),
44114255(c.672+186T>A),
44114352(c.672+89G>A),
44114601(c.595-83G>T),
44114609(c.594+85T>C),
44114615(c.594+79T>A),
44114952(c.389-53G>T),
44114997(c.389-98C>A),
44115023(c.389-124G>A),
44115036(c.389-137G>A),
44115038(c.389-139T>G),
44115047(c.389-148A>T),
44115055(c.389-156A>G),
44115210(c.389-311T>A),
44115249(c.389-350T>A),
44115358(c.389-459G>A),
44115359(c.389-460T>C),
44115392(c.389-493C>T),
44115525(c.389-626G>A),
44115558(c.389-659A>T),
44115581(c.389-682G>A),
44115606(c.389-707C>T),
44115619(c.389-720T>C),
44115680(c.389-781T>C),
44115687(c.389-788A>G),
44115705(c.389-806A>G),
44115732(c.389-833A>G),
44115733(c.389-834C>T),
44115791(c.389-892A>C),
44115837(c.389-938T>G),
44115846(c.389-947T>C),
44116078(c.388+960G>T),
44116210(c.388+828A>G),
44116212(c.388+826C>T),
44116213(c.388+825A>G),
44116221(c.388+817C>T),
44116239(c.388+799T>C),
44116243(c.388+795G>A),
44116280(c.388+758G>A),
44116319(c.388+719A>G),
44116406(c.388+632G>A),
44116433(c.388+605A>G),
44116554(c.388+484G>T),
44116646(c.388+392G>A),
44117278(c.183-35A>T),
44117314(c.183-71C>G),
44117380(c.183-137G>A),
44117456(c.183-213A>G),
44117550(c.183-307C>T),
44117566(c.183-323A>G),
44117572(c.183-329G>T),
44117659(c.183-416A>T),
44117692(c.183-449C>T),
44117696(c.183-453A>G),
44117897(c.182+421C>T),
44117925(c.182+393C>T),
44118060(c.182+258A>G),
44118127(c.182+191A>C),
44118167(c.182+151C>T),
44118189(c.182+129T>G),
-1kb
44101564(c.*5523G>C),
44101622(c.*5465C>G),
44101767(c.*5320T>C),
44102119(c.*4968T>C),
44102167(c.*4920A>G),
44102512(c.*4575A>G),
44102572(c.*4515C>G),
44102652(c.*4435T>C),
44102714(c.*4373G>T),
44102746(c.*4341A>G),
44102751(c.*4336T>C),
44102784(c.*4303G>A),
44103095(c.*3992C>T),
44103137(c.*3950T>C),
44103483(c.*3604T>G),
44103569(c.*3518G>A),
44103768(c.*3319T>G),
44104018(c.*3069G>A),
44104079(c.*3008T>C),
44104219(c.*2868G>A),
44104292(c.*2795G>A),
44104306(c.*2781G>A),
44104313(c.*2774G>C),
44104360(c.*2727A>G),
44104383(c.*2704A>G),
44104452(c.*2635A>G),
44104459(c.*2628T>C),
44104485(c.*2602C>T),
44104526(c.*2561A>C),
44104865(c.*2222C>T),
44104927(c.*2160A>G),
44105617(c.*1470A>G),
44105629(c.*1458G>A),
44105654(c.*1433G>T),
44105660(c.*1427G>T),
44105703(c.*1384A>G),
44105717(c.*1370T>A),
44106078(c.*1009T>G),
44106206(c.*881A>G),
44106248(c.*839T>C),
44106468(c.*619C>T),
44106513(c.*574C>T),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
44107208 (c.1492-105delT),
44107570 (c.1491+192_1491+194delTTG),
44109890 (c.1383+103delT),
44110693 (c.1293+41delT),
44111670 (c.1084-727delG),
44111889 (c.1083+754_1083+755delAT),
44112091 (c.1083+553delA),
44112141 (c.1083+503delC),
44112143 (c.1083+501delC),
44113390 (c.673-216delC),
44114191 (c.672+241_672+249delGGCCACACT),
44114308 (c.672+131_672+132delTA),
44115811 (c.389-913delT),
44115909 (c.389-1012_389-1011delCT),
44115912 (c.389-1015_389-1014delTC),
44116399 (c.388+638delA),
44116499 (c.388+537_388+538delAA),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 4 |
| non-synonymous num | 0 |
| synonymous substitutions |
44112681 (p.Pro349Pro),
44114736 (p.Gly184Gly),
44114745 (p.Lys181Lys),
44117192 (p.Pro78Pro),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000065767)
|
MFSISLLSCLFLGTVPALAQTGGERRLSPEKSEIWGPGLKAHVVLPARYFYIRAVDTSGE
QFTSSPGEKVFQVKISAPDEQFTRVGVQVLDRKDGSFIVRYRMYASYRNLKIEVKHHGQH
VAESPYVLRGPVYHENCDCPLEDSAAWLREMNCSETISQIQKDLAHFPTVDPEKIAAEIP
KRFGQRQSLCHYTLKDNKVYIKTHGEHVGFRIFMDAILLSLTRKVRMPDVEFFVNLGDWP
LEKKKSNSNIQPIFSWCGSTESRDIVMPTYDLTDSVLETMGRVSLDMMSVQANTGPPWES
KNSTAVWRGRDSRKERLELVKLSRKHPELIDAAFTNFFFFKHDESLYGPIVKHISFFDFF
KHKYQINIDGTVAAYRLPYLLVGDSVVLKQDSIYYEHFYNELQPWKHYIPVKSNLSDLLE
KLKWAKEHDAEAKKIAKAGQEFARNNLMGDDIFCYYFKLFQGYANLQVSEPQIREGMKRV
EPQSEDDLFPCTCHRRKAKDEL*
|
|
MSMv4 transcript
|
MFSISLLSCLFLGTVPALAQTGGERRLSPEKSEIWGPGLKAHVVLPARYFYIRAVDTSGE
QFTSSPGEKVFQVKISAPDEQFTRVGVQVLDRKDGSFIVRYRMYASYRNLKIEVKHHGQH
VAESPYVLRGPVYHENCDCPLEDSAAWLREMNCSETISQIQKDLAHFPTVDPEKIAAEIP
KRFGQRQSLCHYTLKDNKVYIKTHGEHVGFRIFMDAILLSLTRKVRMPDVEFFVNLGDWP
LEKKKSNSNIQPIFSWCGSTESRDIVMPTYDLTDSVLETMGRVSLDMMSVQANTGPPWES
KNSTAVWRGRDSRKERLELVKLSRKHPELIDAAFTNFFFFKHDESLYGPIVKHISFFDFF
KHKYQINIDGTVAAYRLPYLLVGDSVVLKQDSIYYEHFYNELQPWKHYIPVKSNLSDLLE
KLKWAKEHDAEAKKIAKAGQEFARNNLMGDDIFCYYFKLFQGYANLQVSEPQIREGMKRV
EPQSEDDLFPCTCHRRKAKDEL*
|
| homology | 100.00 (503 / 503) |
|