From: Interpreting missense mutations in Human TRIM5alpha by computational methods
nsSNP | Domain | Observed Frequency | In-vitro Functional Assays | Affect on Clinical Outcomes |
---|---|---|---|---|
H43Y | RING | Accelerated disease progression [16] | ||
C58Y | RING | < 1% [13] | ND | ND |
V77A | Linker 1 | < 1% [13] | ND | ND |
D93V | Linker 1 | < 1% [13] | ND | ND |
G110E | B-box 2 | Functional/Slightly decreased [15] | No effect [15] | |
V112F | B-box 2 | |||
R119W | B-box 2 | Functional [15] | No effect [15] | |
R119Q | B-box 2 | 1% [15] | Functional [15] | No effect [15] |
R136Q | Coil | Slower progression (in X4 variants) [16]; Increased haplotype frequency in HIV-1 but no affect on disease progression [15]; Suggested protective effect [13] | ||
V140L | Coil | Functional [15] | No effect [15] | |
Q143R | Coil | < 1% [13] | ND | ND |
R238W | Linker 2 | < 5% [23] | Functional [23] | ND |
G249D | Linker 2 | No effect [13]; Slower disease progression [12] | ||
P323R | SPRY | ND | Functional [10] | ND |
K324N | SPRY | ND | Increased activity [10] | ND |
I328M | SPRY | ND | ND | |
G330Q | SPRY | ND | ND | |
R332P | SPRY | ND | ND | |
I348V | SPRY | ND | Functional [29] | ND |
T369S | SPRY | ND | Functional [29] | ND |
H419Y | SPRY | Slower disease progression [12] | ||
V423F | SPRY | < 1% [13] | Functional [13] | ND |
V438G | SPRY | < 1% [13] | ND | ND |
Y444C | SPRY | < 1% [13] | ND | ND |
A446S | SPRY | < 1% [13] | ND | ND |
I461L | SPRY | < 1% [13] | Functional [13] | ND |
S470P | SPRY | < 1% [13] | Functional [13] | ND |
P479L | SPRY | up to 5% [13] | Functional [13] | ND |