| Reports |
| substitution |
| cSNPs | 7 |
| Insertion | 3 |
| Deletion | 1 |
| SNPs |
-1kb
94358185(c.-5244A>C),
94358762(c.-4667T>C),
94358780(c.-4649G>A),
94358888(c.-4541A>G),
94359925(c.-3504C>T),
94359975(c.-3454A>G),
94360027(c.-3402T>C),
94360286(c.-3143C>T),
94360381(c.-3048A>G),
94360421(c.-3008G>C),
94361051(c.-2378C>T),
94361840(c.-1589T>G),
94361941(c.-1488A>G),
94362100(c.-1329C>A),
94362204(c.-1225C>T),
94362261(c.-1168C>T),
94362318(c.-1111A>G),
5'UTR
CDS
3'UTR
INTRON
94362560(c.-83+22G>A),
94362657(c.-83+119A>T),
94362680(c.-83+142C>T),
94362691(c.-83+153G>C),
94362775(c.-83+237A>T),
94362839(c.-83+301G>A),
94362847(c.-83+309G>A),
94362862(c.-83+324A>C),
94362926(c.-83+388T>A),
94362936(c.-83+398A>G),
94363110(c.-82-237C>T),
94363120(c.-82-227T>A),
94363185(c.-82-162T>C),
94363247(c.-82-100A>C),
+1kb
94364847(c.*393C>T),
94364894(c.*440A>C),
94364915(c.*461T>A),
94364973(c.*519C>T),
94365139(c.*685C>T),
94365227(c.*773A>G),
94365479(c.*1025C>T),
94365501(c.*1047T>A),
94365810(c.*1356C>G),
94366213(c.*1759A>C),
94366440(c.*1986G>T),
94366535(c.*2081A>G),
94366755(c.*2301C>T),
94367047(c.*2593G>A),
94367080(c.*2626C>T),
94367082(c.*2628C>T),
94367397(c.*2943C>T),
94367572(c.*3118A>G),
94367929(c.*3475A>C),
94368227(c.*3773A>G),
94368519(c.*4065G>A),
94368538(c.*4084G>C),
94368708(c.*4254G>T),
94368743(c.*4289G>A),
|
| 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 | 2 |
| non-synonymous num | 5 |
| synonymous substitutions |
94363563 (p.Pro45Pro),
94364268 (p.Phe280Phe),
|
| non-synonymous substitutions |
94363601 (p.Arg58Pro),
94363654 (p.Leu76Ile),
94364173 (p.Ile249Val),
94364230 (p.Ser268Gly),
94364432 (p.Ala335Val),
|
B6 transcript
(ENSMUST00000169433)
|
MWLLEKAGYRVRTAEARALQAHPSLVPKRQARGSPSRCNPNVLTPDRIPQFFIPPRLRDP
RGAEGRVDRNPGGRNLPVACSLPHLAGREGWAFLPESPHTRRRESLFHGPRGLAAGLAPA
QSRLHVSAPDLRLCRAPDSDTASSPDSSPCGSPHTPRPQSLSPDEASSADTSPYAPRRAP
PLFHLDFLCCQLRPTKDSVLRLGPRGGQLRLSTEYQAGPGRLRLRLVSAEGLPRPRTRPG
SGGGGCCVILRLQPRVRPGAQRSRVVQSSCNPIFNEDFFFEGLRPPDLAVRSLRAKVLDR
GAGLRRDVLLGECETPLIALLPPLAGGLGPGSSLAPTHLSL*
|
|
MSMv4 transcript
|
MWLLEKAGYRVRTAEARALQAHPSLVPKRQARGSPSRCNPNVLTPDRIPQFFIPPRLPDP
RGAEGRVDRNPGGRNIPVACSLPHLAGREGWAFLPESPHTRRRESLFHGPRGLAAGLAPA
QSRLHVSAPDLRLCRAPDSDTASSPDSSPCGSPHTPRPQSLSPDEASSADTSPYAPRRAP
PLFHLDFLCCQLRPTKDSVLRLGPRGGQLRLSTEYQAGPGRLRLRLVSAEGLPRPRTRPG
SGGGGCCVVLRLQPRVRPGAQRSRVVQGSCNPIFNEDFFFEGLRPPDLAVRSLRAKVLDR
GAGLRRDVLLGECETPLIALLPPLAGGLGPGSSLVPTHLSL*
|
| homology | 98.54 (342 / 342) |
|