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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15537: Variant p.Arg197His

Retinoschisin
Gene: RS1
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Variant information Variant position: help 197
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Histidine (H) at position 197 (R197H, p.Arg197His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Variant description: help In XLRS1.
Other resources: help


Sequence information Variant position: help 197
Protein sequence length: help 224
Location on the sequence: help YGNSDRTSTVQNLLRPPIIS R FIRLIPLGWHVRIAIRMELL
Residue conservation: help
Human                         YGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELL

Mouse                         YGNSDRSSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 224 Retinoschisin
Domain 63 – 219 F5/8 type C
Disulfide bond 63 – 219



Literature citations
Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
Shukla D.; Rajendran A.; Gibbs D.; Suganthalakshmi B.; Zhang K.; Sundaresan P.;
Am. J. Ophthalmol. 144:419-423(2007)
Cited for: VARIANTS XLRS1 GLY-72; HIS-141; HIS-197; CYS-200 AND CYS-206;
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.