| Reports |
| substitution |
| cSNPs | 3 |
| Insertion | 12 |
| Deletion | 15 |
| SNPs |
-1kb
39532290(c.-3549C>T),
39532429(c.-3410G>A),
39532568(c.-3271T>C),
39532869(c.-2970C>T),
39533848(c.-1991C>T),
39533938(c.-1901G>T),
39534303(c.-1536T>C),
39534344(c.-1495A>G),
39534351(c.-1488G>A),
39534686(c.-1153T>A),
39534689(c.-1150T>A),
39534692(c.-1147T>A),
39534695(c.-1144T>A),
39534954(c.-885T>C),
39535264(c.-575T>C),
39535297(c.-542T>A),
39535474(c.-365A>C),
39535571(c.-268G>T),
39535580(c.-259A>T),
39535632(c.-207C>A),
5'UTR
CDS
3'UTR
INTRON
39536356(c.499+19C>T),
39536592(c.499+255A>C),
39537184(c.500-232T>A),
39537253(c.500-163G>A),
39537275(c.500-141C>T),
39537277(c.500-139G>A),
39537387(c.500-29G>A),
39537769(c.664+189A>G),
39538029(c.665-242G>T),
39538460(c.817+37G>A),
39538484(c.817+61C>T),
39538779(c.817+356C>A),
39540118(c.1020+43T>C),
39540223(c.1020+148T>C),
39540381(c.1020+306G>A),
39540453(c.1020+378C>A),
39540865(c.1020+790G>A),
39540948(c.1020+873T>A),
39541241(c.1021-1159C>T),
39542034(c.1021-366G>C),
39542072(c.1021-328T>C),
39542754(c.1223+152A>G),
39542789(c.1223+187C>T),
39542884(c.1223+282C>T),
39542904(c.1223+302C>T),
39542922(c.1223+320G>T),
39543335(c.1223+733C>T),
39543712(c.1223+1110G>A),
39544076(c.1224-816C>T),
39544117(c.1224-775G>A),
39544300(c.1224-592G>T),
+1kb
39547427(c.*2161C>T),
39547462(c.*2196G>A),
39547471(c.*2205G>A),
39547499(c.*2233G>A),
39548284(c.*3018G>A),
39548529(c.*3263A>G),
39548627(c.*3361A>C),
39549401(c.*4135C>A),
39549775(c.*4509C>T),
39549908(c.*4642A>G),
39550018(c.*4752G>A),
39550021(c.*4755G>A),
39550646(c.*5380C>T),
39550706(c.*5440C>T),
39550769(c.*5503G>A),
39550775(c.*5509G>C),
39550844(c.*5578G>T),
39550983(c.*5717G>A),
39551161(c.*5895C>A),
39551545(c.*6279C>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 | 3 |
| non-synonymous num | 0 |
| synonymous substitutions |
39536243 (p.Leu135Leu),
39538344 (p.Ser246Ser),
39538404 (p.Gly266Gly),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000003219)
|
MPGGGASTASGRLLSSADPRGAREAAAFRSGPAGSSGGRGGAGGPGPGIGGPAGRMSLTP
KELSSLLSIISEEAGGGSTFEGLSTAFHHYFSKADHFRLGSVLVMLLQQPDLLPSAAQRL
TALYLLWEMYRTEPLAANPFAASFAHLLNPAPPARGGQEPDRPPLSGFLPPITPPEKFFL
SQLMLAPPRELFKKTPRQIALMDVGNMGQSVDISGLQLALAERQSELPTQSKASFPSILS
DPDPDSSNSGFDSSVASRITESLVSGPKPPIESHFRPEFIRPPPPLHICEDELAWLNPTE
PEHAIQWDRSMCVKNSTGVEIKRIMAKAFKSPLSSPQQTQLLGELEKDPKLVYHIGLTPA
KLPDLVENNPLVAIEMLLKLMQSSQITEYFSVLVNMDMSLHSMEVVNRLTTAVDLPPEFI
HLYISNCISTCEQIKDKYMQNRLVRLVCVFLQSLIRNKIINVQDLFIEVQAFCIEFSRIR
EAAGLFRLLKTLDTGETPSETKISK*
|
|
MSMv4 transcript
|
MPGGGASTASGRLLSSADPRGAREAAAFRSGPAGSSGGRGGAGGPGPGIGGPAGRMSLTP
KELSSLLSIISEEAGGGSTFEGLSTAFHHYFSKADHFRLGSVLVMLLQQPDLLPSAAQRL
TALYLLWEMYRTEPLAANPFAASFAHLLNPAPPARGGQEPDRPPLSGFLPPITPPEKFFL
SQLMLAPPRELFKKTPRQIALMDVGNMGQSVDISGLQLALAERQSELPTQSKASFPSILS
DPDPDSSNSGFDSSVASRITESLVSGPKPPIESHFRPEFIRPPPPLHICEDELAWLNPTE
PEHAIQWDRSMCVKNSTGVEIKRIMAKAFKSPLSSPQQTQLLGELEKDPKLVYHIGLTPA
KLPDLVENNPLVAIEMLLKLMQSSQITEYFSVLVNMDMSLHSMEVVNRLTTAVDLPPEFI
HLYISNCISTCEQIKDKYMQNRLVRLVCVFLQSLIRNKIINVQDLFIEVQAFCIEFSRIR
EAAGLFRLLKTLDTGETPSETKISK*
|
| homology | 100.00 (506 / 506) |
|