| Reports |
| substitution |
| cSNPs | 4 |
| Insertion | 11 |
| Deletion | 12 |
| SNPs |
+1kb
79164648(c.-932T>C),
79164698(c.-982T>C),
79164717(c.-1001T>C),
79165170(c.-1454T>C),
79165202(c.-1486T>G),
79165584(c.-1868A>G),
79166113(c.-2397G>A),
79166630(c.-2914C>G),
79167598(c.-3882C>T),
79167727(c.-4011G>A),
79167728(c.-4012A>G),
79167730(c.-4014G>A),
79168158(c.-4442C>G),
79168553(c.-4837G>A),
79168989(c.-5273T>C),
79169001(c.-5285C>A),
79169024(c.-5308A>G),
79169030(c.-5314A>G),
79169042(c.-5326A>G),
79169045(c.-5329G>C),
79169053(c.-5337G>A),
79169094(c.-5378A>G),
79169268(c.-5552A>G),
79169416(c.-5700T>C),
5'UTR
CDS
3'UTR
79155245(c.*693C>A),
79155259(c.*679T>C),
79155389(c.*549G>A),
79155422(c.*516C>T),
79155531(c.*407G>A),
79155541(c.*397A>G),
79155582(c.*356G>C),
79155723(c.*215C>T),
79155771(c.*167G>A),
79155903(c.*35T>C),
79155904(c.*34T>C),
INTRON
79156969(c.698-328G>A),
79157034(c.698-393A>C),
79157346(c.698-705G>A),
79157459(c.698-818T>C),
79157609(c.698-968A>G),
79157655(c.698-1014A>G),
79158138(c.697+997A>G),
79158473(c.697+662A>G),
79158644(c.697+491C>T),
79158968(c.697+167G>A),
79159080(c.697+55T>G),
79160136(c.429-733G>C),
79161007(c.429-1604T>C),
79161052(c.429-1649G>A),
79161094(c.429-1691G>T),
79161098(c.429-1695G>A),
79161266(c.429-1863G>A),
79162025(c.428+1264A>T),
79162146(c.428+1143G>A),
79162549(c.428+740T>C),
79162836(c.428+453C>T),
79162838(c.428+451T>A),
79163273(c.428+16G>C),
79164012(c.-78-218A>T),
-1kb
79150835(c.*5103C>T),
79151211(c.*4727T>C),
79151348(c.*4590C>T),
79151446(c.*4492T>C),
79151488(c.*4450T>C),
79151688(c.*4250G>A),
79151810(c.*4128A>G),
79151835(c.*4103G>A),
79152023(c.*3915A>G),
79152253(c.*3685G>A),
79152334(c.*3604A>G),
79152684(c.*3254A>G),
79152729(c.*3209G>A),
79152943(c.*2995G>A),
79153415(c.*2523A>G),
79153822(c.*2116T>C),
79153929(c.*2009A>G),
79153958(c.*1980C>T),
79154158(c.*1780C>A),
79154358(c.*1580T>C),
79154412(c.*1526C>T),
|
| 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 | 4 |
| non-synonymous num | 0 |
| synonymous substitutions |
79156004 (p.Ser445Ser),
79156196 (p.Thr381Thr),
79156385 (p.Tyr318Tyr),
79159357 (p.Arg159Arg),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000040019)
|
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQD
GEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARR
KLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKN
GKAAQGEAECPGGEAEQGGAAAIQAHYKSAHLDHRHPEEGSPMSDGNPEHPSGQSHGPPT
PPTTPKTELQSGKADPKRDGRSLGEGGKPHIDFGNVDIGEISHEVMSNMETFDVTELDQY
LPPNGHPGHVGSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTET
TGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHAGQASG
LYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP*
|
|
MSMv4 transcript
|
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQD
GEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARR
KLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKN
GKAAQGEAECPGGEAEQGGAAAIQAHYKSAHLDHRHPEEGSPMSDGNPEHPSGQSHGPPT
PPTTPKTELQSGKADPKRDGRSLGEGGKPHIDFGNVDIGEISHEVMSNMETFDVTELDQY
LPPNGHPGHVGSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTET
TGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHAGQASG
LYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP*
|
| homology | 100.00 (467 / 467) |
|