UniProtKB/SwissProt variant VAR

Nephrocystin-1
Gene: NPHP1
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Variant information Variant position:

342
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 342 (G342R, p.Gly342Arg).
Physico-chemical properties:

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

-2
Variant description:

In NPHP1; patients show Cogan-type congenital ocular motor apraxia.
Other resources:

Variant rs121907899 [ dbSNP | Ensembl ]

Sequence information Variant position:

342
Protein sequence length:

732
Location on the sequence:

TMGAIPAGFRPSTLSQLLEE G NQFRANYFLQPELMPSQLAF
Residue conservation:

Human                         TMGAIPAGFRPSTLSQLLEE-GNQFRANYFLQPELMPSQLAF

Mouse                         TMGAIPAGFRPSTLSQLLDEAGNQFRASYFLQPELTTSQLA

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

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15259: Variant p.Gly342Arg