UniProtKB/SwissProt variant VAR

Solute carrier family 4 member 11
Gene: SLC4A11
Feedback?

Variant information Variant position:

726
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 726 (G726R, p.Gly726Arg).
Physico-chemical properties:

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

-2
Variant description:

In FECD4; interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm.
Other resources:

Variant rs143965185 [ dbSNP | Ensembl ]

Sequence information Variant position:

726
Protein sequence length:

875
Location on the sequence:

YPHSPLHVRALALVEERVEN G HIYDTIVNVKETRLTSLGAS
Residue conservation:

Human                         YPHSPLHVRALALVEERVENGHIYDTIVNVKETRLTSLGAS

Mouse                         YPHSPLHVRALALVEERVENGHIYETIVDVKETRLTALGAS

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 875	Solute carrier family 4 member 11
Topological domain	705 – 734	Extracellular

Literature citations
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya.
Riazuddin S.A.; Vithana E.N.; Seet L.F.; Liu Y.; Al-Saif A.; Koh L.W.; Heng Y.M.; Aung T.; Meadows D.N.; Eghrari A.O.; Gottsch J.D.; Katsanis N.;
Hum. Mutat. 31:1261-1268(2010)
Cited for: VARIANTS FECD4 ASP-151; PRO-266; CYS-510; MET-559; ASP-567; ARG-726 AND SER-818; CHARACTERIZATION OF VARIANTS FECD4 ASP-151; PRO-266; CYS-510; MET-559; ASP-567; ARG-726 AND SER-818;

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 Q8NBS3: Variant p.Gly726Arg