UniProtKB/SwissProt variant VAR

Retinoschisin
Gene: RS1
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Variant information Variant position:

197
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Histidine (H) at position 197 (R197H, p.Arg197His).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (H)
BLOSUM score:

0
Variant description:

In XLRS1.
Other resources:

Variant rs281865355 [ dbSNP | Ensembl ]

Sequence information Variant position:

197
Protein sequence length:

224
Location on the sequence:

YGNSDRTSTVQNLLRPPIIS R FIRLIPLGWHVRIAIRMELL
Residue conservation:

Human                         YGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELL

Mouse                         YGNSDRSSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELL

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15537: Variant p.Arg197His