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Table 1 Observed TRIM5α mutations

From: Interpreting missense mutations in Human TRIM5alpha by computational methods

nsSNP

Domain

Observed Frequency

In-vitro Functional Assays

Affect on Clinical Outcomes

H43Y

RING

6–43% [12, 13, 15, 16, 23]

Functional [12, 14, 15];

Decreased [13, 23]

No effect [1215];

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

< 1 to 2% [13, 15]

Functional/Slightly decreased [15]

No effect [15]

V112F

B-box 2

1–11% [12, 13, 15]

Functional [15, 23]/Slightly decreased [13]

No effect [12, 13, 15]

R119W

B-box 2

< 1% [13, 15]

Functional [15]

No effect [15]

R119Q

B-box 2

1% [15]

Functional [15]

No effect [15]

R136Q

Coil

11–38% [12, 13, 15, 16]

Functional [12, 15, 23]/Increased activity [13]

No effect [12, 13, 16];

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

< 1% [13, 15]

Functional [15]

No effect [15]

Q143R

Coil

< 1% [13]

ND

ND

R238W

Linker 2

< 5% [23]

Functional [23]

ND

G249D

Linker 2

6–27% [12, 13]

Functional [12, 13, 23]

No effect [13];

Slower disease progression [12]

P323R

SPRY

ND

Functional [10]

ND

K324N

SPRY

ND

Increased activity [10]

ND

I328M

SPRY

ND

Functional [10, 29]

ND

G330Q

SPRY

ND

Functional [10, 29]

ND

R332P

SPRY

ND

Increased activity [10, 29]

ND

I348V

SPRY

ND

Functional [29]

ND

T369S

SPRY

ND

Functional [29]

ND

H419Y

SPRY

1–8% [12, 13, 15]

Functional [12, 13, 15, 23]

No effect [13, 15];

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

  1. ND: Not determined