Variant position: 2148 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3354 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 GNATIDREEQESYRLTVVAT DRGTVPLSGTAIVTILIDDIN
Mouse GNATIDREEQESYRLTVVAT DRGTVPLSGTAIVTILIDDIN
Rat GNATIDREEQESYRLTVVAT DRGTVPLSGTATVTILIDDIN
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
24 – 3354 Cadherin-23
24 – 3064 Extracellular
2070 – 2174 Cadherin 20
2129 – 2129 N-linked (GlcNAc...) asparagine
2168 – 2168 N-linked (GlcNAc...) asparagine
1 – 2240 Missing. In isoform 7 and isoform 9.
25 – 3127 Missing. In isoform 10 and isoform 11.
531 – 3354 Missing. In isoform 5.
1213 – 3354 Missing. In isoform 6.
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
de Brouwer A.P.M.; Pennings R.J.E.; Roeters M.; Van Hauwe P.; Astuto L.M.; Hoefsloot L.H.; Huygen P.L.M.; van den Helm B.; Deutman A.F.; Bork J.M.; Kimberling W.J.; Cremers F.P.M.; Cremers C.W.R.J.; Kremer H.;
Hum. Genet. 112:156-163(2003)
Cited for: VARIANTS DFNB12 ASN-1341 AND ASN-2148; VARIANTS ILE-2283; GLN-2358 AND LEU-2380;
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.