| Reports |
| substitution |
| cSNPs | 3 |
| Insertion | 5 |
| Deletion | 4 |
| SNPs |
-1kb
55459542(c.-12483C>T),
55460360(c.-11665T>A),
55461488(c.-10537G>A),
55462410(c.-9615G>A),
55462960(c.-9065C>T),
55463100(c.-8925C>T),
55463358(c.-8667A>G),
55463944(c.-8081C>T),
55464031(c.-7994C>T),
55464141(c.-7884C>G),
5'UTR
CDS
3'UTR
INTRON
55465837(c.-238+1423C>T),
55467235(c.-238+2821T>C),
55468111(c.-237-3677A>G),
55468179(c.-237-3609A>G),
55468361(c.-237-3427G>C),
55468544(c.-237-3244G>A),
55468626(c.-237-3162G>A),
55468778(c.-237-3010G>A),
55469128(c.-237-2660C>T),
55469715(c.-237-2073T>A),
55469996(c.-237-1792T>C),
55470729(c.-237-1059C>T),
55470737(c.-237-1051T>C),
55471206(c.-237-582T>C),
+1kb
55473235(c.*245A>C),
55473535(c.*545A>G),
55474663(c.*1673A>G),
55474762(c.*1772C>T),
55475289(c.*2299A>G),
55475665(c.*2675A>G),
55476803(c.*3813G>A),
55477583(c.*4593G>A),
55477792(c.*4802C>T),
55478032(c.*5042T>C),
|
| 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 | 1 |
| non-synonymous num | 2 |
| synonymous substitutions |
55472219 (p.Leu65Leu),
|
| non-synonymous substitutions |
55472319 (p.Leu99Met),
55472347 (p.Ala108Val),
|
B6 transcript
(ENSMUST00000046533)
|
MVMSQGTYTFLTCFAGFWLIWGLIVLLCCFCSFLRRRLKRRQEERLREQNLRALELEPLE
LEGSLAGSPPGLAPPPPPHRSRLEAPVHAHSHVHVHPLLHHGPAPPHAHPHPHHHALPHP
PPPHLAVPPRPWSYPRQAESDMSKPPCYEEAVLMAEPPPPYSEVLTDTRGLYRKIVTPFL
SRRDSAEKQEQPPPSYKPLFLDRGYTSALHLPSAPRPAAPCPALCLQAERSRRVFPSWTD
SELSSREPLEHGAWRLPVSIPLFGRTTAV*
|
|
MSMv4 transcript
|
MVMSQGTYTFLTCFAGFWLIWGLIVLLCCFCSFLRRRLKRRQEERLREQNLRALELEPLE
LEGSLAGSPPGLAPPPPPHRSRLEAPVHAHSHVHVHPLMHHGPAPPHVHPHPHHHALPHP
PPPHLAVPPRPWSYPRQAESDMSKPPCYEEAVLMAEPPPPYSEVLTDTRGLYRKIVTPFL
SRRDSAEKQEQPPPSYKPLFLDRGYTSALHLPSAPRPAAPCPALCLQAERSRRVFPSWTD
SELSSREPLEHGAWRLPVSIPLFGRTTAV*
|
| homology | 99.26 (270 / 270) |
|