UniProtKB/SwissProt variant VAR

THO complex subunit 6
Gene: THOC6
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Variant information Variant position:

46
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 46 (G46R, p.Gly46Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In BBIS; localizes to the cytoplasm and not to the nucleus.
Other resources:

Variant rs587777030 [ dbSNP | Ensembl ]

Sequence information Variant position:

46
Protein sequence length:

341
Location on the sequence:

TIFSQSVSPCGKFLAAGNNY G QIAIFSLSSALSSEAKEESK
Residue conservation:

Human                         TIFSQSVSPCGKFLAAGNNYGQIAIFSLSSALSSEAKEESK

Mouse                         TIFSQSVSPCGKFLAAGNNYGQIAIFSLSAALSSEAKEESK

Rat                           TIFSQSVSPCGKFLAAGNNYGQIAIFSLSAALSSEAKEESK

Zebrafish                     SVFSQSFSPCGRYLAAGNNYGEIAVFSLSAALSPDASERSQ

Drosophila                    NVLAQAISGSKQYLFAGNLFGDIFVLRIKE-LDKGSEEPPG

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 341	THO complex subunit 6
Repeat	22 – 61	WD 1
Beta strand	46 – 52

Literature citations
Intellectual disability associated with a homozygous missense mutation in THOC6.
Beaulieu C.L.; Huang L.; Innes A.M.; Akimenko M.A.; Puffenberger E.G.; Schwartz C.; Jerry P.; Ober C.; Hegele R.A.; McLeod D.R.; Schwartzentruber J.; Majewski J.; Bulman D.E.; Parboosingh J.S.; Boycott K.M.;
Orphanet J. Rare Dis. 8:62-62(2013)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANT BBIS ARG-46; CHARACTERIZATION OF VARIANT BBIS ARG-46;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86W42: Variant p.Gly46Arg