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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96KN7: Variant p.Ser135Arg

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Gene: RPGRIP1
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Variant information Variant position: help 135
Type of variant: help LB/B
Residue change: help From Serine (S) to Arginine (R) at position 135 (S135R, p.Ser135Arg).
Physico-chemical properties: help Change from small size and polar (S) to large size and basic (R)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 135
Protein sequence length: help 1286
Location on the sequence: help MHQRPQMHRLQGHFHCVGPA S PRRAQPRVQVGHRQLHTAGA
Residue conservation: help 
Human                         MHQRPQMHRLQGHFHCVGPASPR----RAQPRVQVGHRQLHTAGA

Mouse                         SPSAPPRAPVPGRKAHVQRLCPSTAVGSAQPRVHAGRRLPH

Bovine                        APSSTSVPRCPGSSCSSSAWAPLL---PAAPSL-ASTRDTD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1286 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Alternative sequence 1 – 641 Missing. In isoform 3.
Alternative sequence 1 – 617 Missing. In isoform 2.
Alternative sequence 1 – 384 Missing. In isoform 5 and isoform 6.
Alternative sequence 1 – 358 Missing. In isoform 4.



Literature citations
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Fernandez-Martinez L.; Letteboer S.; Mardin C.Y.; Weisschuh N.; Gramer E.; Weber B.H.; Rautenstrauss B.; Ferreira P.A.; Kruse F.E.; Reis A.; Roepman R.; Pasutto F.;
Eur. J. Hum. Genet. 19:445-451(2011)
Cited for: INTERACTION WITH NPHP4; INVOLVEMENT IN GLAUCOMA; VARIANTS LEU-32; ARG-135; VAL-318; THR-363; SER-585; HIS-589; GLN-598; SER-603; GLY-635; ILE-638; VAL-764; ILE-806; HIS-812; LEU-814; GLY-837; VAL-838; THR-841; GLN-852 AND ASP-883; CHARACTERIZATION OF VARIANTS HIS-589; GLN-598; GLY-635; VAL-764; ILE-806; HIS-812; GLY-837 AND VAL-838;
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.