Variant position: 122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 169 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 DTYRTKIQFPGEFLTPPTPP ITFLANIRHWINPKKESIHSI
Mouse DIQGTKIQFPGECFHAPSAP ITSRTTIRHWINPKKESIHSI
Zebrafish ADNGTK---KNKELEDSVCD AENKG-IKVWVDTQKASLYSI
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
1 – 169 Protein CFAP276
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Sun S.C.; Ma D.; Li M.Y.; Zhang R.X.; Huang C.; Huang H.J.; Xie Y.Z.; Wang Z.J.; Liu J.; Cai D.C.; Liu C.X.; Yang Q.; Bao F.X.; Gong X.L.; Li J.R.; Hui Z.; Wei X.F.; Zhong J.M.; Zhou W.J.; Shang X.; Zhang C.; Liu X.G.; Tang B.S.; Xiong F.; Xu X.M.;
Cited for: SUBCELLULAR LOCATION; VARIANTS ILE-28 AND ASN-122; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS ILE-28 AND ASN-122; FUNCTION; INVOLVEMENT IN CHAROT-MARIE-TOOTH DISEASE;
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.