| Reports |
| substitution |
| cSNPs | 10 |
| Insertion | 1 |
| Deletion | 5 |
| SNPs |
-1kb
89224997(c.-4123T>G),
89225188(c.-3932T>C),
89225308(c.-3812T>C),
89225590(c.-3530G>A),
89225672(c.-3448C>T),
89225751(c.-3369C>T),
89225764(c.-3356G>T),
89226337(c.-2783G>A),
89226751(c.-2369G>A),
89227252(c.-1868T>A),
89227435(c.-1685A>G),
89227777(c.-1343T>C),
89228143(c.-977T>G),
89228310(c.-810A>G),
89228530(c.-590A>G),
89228576(c.-544G>T),
89229046(c.-74C>G),
5'UTR
CDS
89230125(c.273C>T),
89230161(c.309C>T),
89230173(c.321A>G),
89230322(c.470C>T),
89230523(c.671T>C),
89230553(c.701C>T),
89230569(c.717T>G),
89230572(c.720T>C),
89230775(c.923T>A),
89231019(c.1167C>T),
3'UTR
INTRON
89229619(c.59-292T>C),
89229855(c.59-56G>C),
89231388(c.1415+23G>T),
89231400(c.1415+35T>A),
89232146(c.1821+31T>G),
89232800(c.1822-224T>C),
89232824(c.1822-200T>C),
89232828(c.1822-196C>A),
89232837(c.1822-187G>A),
89232864(c.1822-160A>C),
+1kb
89233428(c.*330G>C),
89233627(c.*529T>C),
89233859(c.*761G>A),
89233982(c.*884T>C),
89234132(c.*1034A>G),
89234145(c.*1047C>T),
89234374(c.*1276A>C),
89234393(c.*1295G>A),
89234506(c.*1408T>C),
89234514(c.*1416T>C),
89234519(c.*1421G>A),
89234856(c.*1758A>G),
89235166(c.*2068T>C),
89235397(c.*2299C>A),
89235622(c.*2524G>A),
89235644(c.*2546T>G),
89235645(c.*2547C>T),
89235654(c.*2556G>C),
89236644(c.*3546G>C),
89236831(c.*3733A>G),
89236933(c.*3835G>A),
89237027(c.*3929G>A),
89237105(c.*4007T>A),
89237218(c.*4120A>C),
89237695(c.*4597G>A),
89237717(c.*4619G>A),
89237915(c.*4817G>A),
89238106(c.*5008A>G),
|
| 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 | 6 |
| non-synonymous num | 4 |
| synonymous substitutions |
89230125 (p.Gly91Gly),
89230161 (p.Ser103Ser),
89230173 (p.Pro107Pro),
89230569 (p.Ser239Ser),
89230572 (p.Ser240Ser),
89231019 (p.His389His),
|
| non-synonymous substitutions |
89230322 (p.Ser157Leu),
89230523 (p.Leu224Pro),
89230553 (p.Ala234Val),
89230775 (p.Val308Asp),
|
B6 transcript
(ENSMUST00000041142)
|
MTPGIRAPFFLLLLLASLKGFLALPSEENSVTSSQDTSSSLASTTTPVHSSNSDPATRPP
GDSTSSPVQSSTSSPATRAPEDSTSTAVLSGTSSPATTAPVNSASSPVAHGDTSSPATSL
SKDSNSSPVVHSGTSSAPATTAPVDSTSSPVVHGGTSSPATSPPGDSTSSPDHSSTSSPA
TRAPEDSTSTAVLSGTSSPATTAPVDSTSSPVAHDDTSSPATSLSEDSASSPVAHGGTSS
PATSPLRDSTSSPVHSSASIQNIKTTSDLASTPDHNGTSVTTTSSALGSATSPDHSGTST
TTNSSESVLATTPVYSSMPFSTTKVTSGSAIIPDHNGSSVLPTSSVLGSATSLVYNTSAI
ATTPVSNGTQPSVPSQYPVSPTMATTSSHSTIASSSYYSTVPFSTFSSNSSPQLSVGVSF
FFLSFYIQNHPFNSSLEDPSSNYYQELKRNISGLFLQIFNGDFLGISSIKFRSGSVVVES
TVVFREGTFSASDVKSQLIQHKKEADDYNLTISEVKVNEMQFPPSAQSRPGVPGWGIALL
VLVCILVALAIVYFLALAVCQCRRKSYGQLDIFPTQDTYHPMSEYPTYHTHGRYVPPGST
KRSPYEEVSAGNGSSSLSYTNPAVVTTSANL*
|
|
MSMv4 transcript
|
MTPGIRAPFFLLLLLASLKGFLALPSEENSVTSSQDTSSSLASTTTPVHSSNSDPATRPP
GDSTSSPVQSSTSSPATRAPEDSTSTAVLSGTSSPATTAPVNSASSPVAHGDTSSPATSL
SKDSNSSPVVHSGTSSAPATTAPVDSTSSPVVHGGTLSPATSPPGDSTSSPDHSSTSSPA
TRAPEDSTSTAVLSGTSSPATTAPVDSTSSPVAHDDTSSPATSPSEDSASSPVVHGGTSS
PATSPLRDSTSSPVHSSASIQNIKTTSDLASTPDHNGTSVTTTSSALGSATSPDHSGTST
TTNSSESDLATTPVYSSMPFSTTKVTSGSAIIPDHNGSSVLPTSSVLGSATSLVYNTSAI
ATTPVSNGTQPSVPSQYPVSPTMATTSSHSTIASSSYYSTVPFSTFSSNSSPQLSVGVSF
FFLSFYIQNHPFNSSLEDPSSNYYQELKRNISGLFLQIFNGDFLGISSIKFRSGSVVVES
TVVFREGTFSASDVKSQLIQHKKEADDYNLTISEVKVNEMQFPPSAQSRPGVPGWGIALL
VLVCILVALAIVYFLALAVCQCRRKSYGQLDIFPTQDTYHPMSEYPTYHTHGRYVPPGST
KRSPYEEVSAGNGSSSLSYTNPAVVTTSANL*
|
| homology | 99.37 (632 / 632) |
|