UniProtKB/SwissProt variant VAR

THO complex subunit 2
Gene: THOC2
Feedback?

Variant information Variant position:

313
Type of variant:

US
Residue change:

From Leucine (L) to Phenylalanine (F) at position 313 (L313F, p.Leu313Phe).
Physico-chemical properties:

Change from medium size and hydrophobic (L) to large size and aromatic (F)
BLOSUM score:

0
Variant description:

In MRXSK; uncertain significance.
Other resources:

Variant rs797045019 [ dbSNP | Ensembl ]

Sequence information Variant position:

313
Protein sequence length:

1593
Location on the sequence:

NCIMDEHKREIAEAKQIVRK L TMVVLSSEKMDEREKEKEKE
Residue conservation:

Human                         NCIMDEHKREIAEAKQIVRKLTMVVLSSEKMDEREKEKEKE

Mouse                         NCIMDEYKREIVEAKQIVRKLTMVVLSSEKLDERDKEKDKD

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1593	THO complex subunit 2
Region	164 – 534	Bow domain; interaction with THOC1 dock domain and THOC3
Alternative sequence	1 – 1179	Missing. In isoform 2.

Literature citations
THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability.
Kumar R.; Corbett M.A.; van Bon B.W.; Woenig J.A.; Weir L.; Douglas E.; Friend K.L.; Gardner A.; Shaw M.; Jolly L.A.; Tan C.; Hunter M.F.; Hackett A.; Field M.; Palmer E.E.; Leffler M.; Rogers C.; Boyle J.; Bienek M.; Jensen C.; Van Buggenhout G.; Van Esch H.; Hoffmann K.; Raynaud M.; Zhao H.; Reed R.; Hu H.; Haas S.A.; Haan E.; Kalscheuer V.M.; Gecz J.;
Am. J. Hum. Genet. 97:302-310(2015)
Cited for: VARIANTS MRXSK PHE-313; PRO-438; THR-800 AND PRO-1012; CHARACTERIZATION OF VARIANTS MRXSK PRO-438; THR-800 AND PRO-1012; INVOLVEMENT IN MRXSK; TISSUE SPECIFICITY;

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 Q8NI27: Variant p.Leu313Phe