Variant position: 225 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 358 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VCM-EGKQHGDVVSAIRAGGD ETKLLVVDRETDEFFKKCRVI----------------
Mouse VCM-EGKQHGDVVSAIKGGGD EAKLLVVDKETDEFFKKCKV
Rat VCM-EGKQHGDVVSAIKAGGD EAKLLVVDKETDEFFKKCRV
Bovine VCV-EGKPHGEVVSAIKAGGD EAKLLVVDRETDEFFKKCKV
Rabbit VCV-EGKQHGDVVTAIKAGGD EAKLLVVDKETDEFFKKCKV
Chicken TSV-EGKQHADVVAAIKAGGD ETKLLVVGVLADEFFKKCRV
Caenorhabditis elegans QLIYPTTGHKEVVALIKKDTM KTTLLVASEDVDKYHKDHNI
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 358 Na(+)/H(+) exchange regulatory cofactor NHE-RF1
154 – 234 PDZ 2
225 – 231
NHERF1 mutations and responsiveness of renal parathyroid hormone.
Karim Z.; Gerard B.; Bakouh N.; Alili R.; Leroy C.; Beck L.; Silve C.; Planelles G.; Urena-Torres P.; Grandchamp B.; Friedlander G.; Prie D.;
N. Engl. J. Med. 359:1128-1135(2008)
Cited for: FUNCTION IN RENAL PHOSPHATE ABSORPTION; VARIANTS NPHLOP2 VAL-110; GLN-153 AND LYS-225; CHARACTERIZATION OF VARIANTS NPHLOP2 VAL-110; GLN-153 AND LYS-225;
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.