Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q01968: Variant p.Asp451Asn

Inositol polyphosphate 5-phosphatase OCRL
Gene: OCRL
Feedback?
Variant information Variant position: help 451
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Asparagine (N) at position 451 (D451N, p.Asp451Asn).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score: help 1
Variant description: help In OCRL.
Other resources: help


Sequence information Variant position: help 451
Protein sequence length: help 901
Location on the sequence: help DANEVKSLINKKDLQRLLKF D QLNIQRTQKKAFVDFNEGEI
Residue conservation: help 
Human                         DANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEI

Mouse                         DASEVKSLINKNELHKLLKFDQLNIQRTQKKAFADFNEGEI

Rat                           DANEVKSLINKNELQKLLKFDQLNIQRTQKKAFVDFNEGEI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 901 Inositol polyphosphate 5-phosphatase OCRL
Region 237 – 563 5-phosphatase



Literature citations
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri H.; Rendu J.; Monnier N.; Coutton C.; Dorseuil O.; Poussou R.V.; Baujat G.; Blanchard A.; Nobili F.; Ranchin B.; Remesy M.; Salomon R.; Satre V.; Lunardi J.;
Hum. Mutat. 32:379-388(2011)
Cited for: VARIANTS OCRL SER-242; THR-274; ARG-277; CYS-318; CYS-337; ILE-361; GLY-372; TYR-373; PHE-374; ARG-414; ASN-451; GLY-457; LYS-468; GLY-468; LEU-495; HIS-499; ARG-503; LYS-591; VAL-742 DEL; PRO-797; LEU-801 AND ARG-891; VARIANTS DENT2 HIS-354 AND LEU-799;
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.