Variant position: 153 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 NENEPR-------EADKSHPEQRELRP RLCTMKKGP--SGYGFNLHSDKS
Mouse DQN----------EAEKSHL--RELRP RLCTMKKGP--NGY
Rat DQN----------EAEKSHLERCELRP RLCTMKKGP--NGY
Bovine GENEPPAAAPEPREAEQSPQERRELRP RLCAMKKGP--NGY
Rabbit GENEPR-------EVEKSHPERRELRP RLCAMKKGP--NGY
Chicken -------------AAERSGPEERELRP RLCRIKKGP--NGY
Caenorhabditis elegans ---PPP-------PPTDAMP----YLP RLAELNKGTPDQEF
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
162 – 162 Phosphoserine
1 – 156 Missing. In isoform 2.
153 – 158
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.