Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15259: Variant p.Gly342Arg

Nephrocystin-1
Gene: NPHP1
Feedback?
Variant information Variant position: help 342
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 342 (G342R, p.Gly342Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In NPHP1; patients show Cogan-type congenital ocular motor apraxia.
Other resources: help


Sequence information Variant position: help 342
Protein sequence length: help 732
Location on the sequence: help TMGAIPAGFRPSTLSQLLEE G NQFRANYFLQPELMPSQLAF
Residue conservation: help
Human                         TMGAIPAGFRPSTLSQLLEE-GNQFRANYFLQPELMPSQLAF

Mouse                         TMGAIPAGFRPSTLSQLLDEAGNQFRASYFLQPELTTSQLA

Caenorhabditis elegans        -----------DCLGKAYDN-DTHLSLVCHMAPRLSTSNIG

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 732 Nephrocystin-1
Modified residue 349 – 349 Phosphotyrosine; by FAK2



Literature citations
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.
Betz R.; Rensing C.; Otto E.; Mincheva A.; Zehnder D.; Lichter P.; Hildebrandt F.;
J. Pediatr. 136:828-831(2000)
Cited for: VARIANT NPHP1 ARG-342;
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.