cDNA change |
Protein |
dbSNP135 |
Accession# |
Pathogenic |
References |
c.50 T>C |
L17P |
rs74315436 |
NM_014588 |
Polymorphic |
[46,49,50] |
c.315 C>A |
D105E |
rs6115023 |
NM_014588 |
Polymorphic |
[54] |
c.391 C>A |
R131S |
rs6050307 |
NM_014588 |
Polymorphic |
[53,54] |
c.432 C>G |
D144E |
rs140122268 |
NM_014588 |
Polymorphic |
[40,46,47,49,50,53,54] |
c.452 A>G |
N151S |
- |
NM_014588 |
Pathogenic |
[44] |
c.475 T>A |
L159M |
rs74315434 |
NM_014588 |
Polymorphic |
[40,56] |
c.479G>A |
G160D |
rs74315433 |
NM_014588 |
Polymorphic |
[40,46,49,50] |
c.479 G>T |
G160V |
rs74315433 |
NM_014588 |
Polymorphic |
[44] |
c.496 C>T |
R166W |
- |
NM_014588 |
Pathogenic |
[40,52] |
c.525 G>C |
Q175H |
- |
NM_014588 |
Pathogenic |
[48,51] |
c.650 G>A |
R217H |
rs6138482 |
NM_199425 |
Polymorphic |
[49,54,59] |
c.715 G>C |
G239R |
- |
NM_014588 |
Pathogenic |
[50] |
c. 731 A>G |
H244R |
rs148957473 |
NM_014588 |
Polymorphic |
[40,52,56] |
c.740 C>G |
P247R |
- |
NM_014588 |
Pathogenic |
[40,46,50] |
c.766 G>T |
A256S |
rs74315435 |
NM_014588 |
Polymorphic |
[45] |
|