Variant position: 110 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 506 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 ACTLPDGSRLQLRPAICDKA RLKQQKKACPN--CHSA-LELIPC
Mouse ACALKDGSHLQLRPAICDKA RLKQQKKACPN--CHSP-LEL
Drosophila HCTLPNGSKINLRPAICDKA RRKQEGKACPNKSCRGGRLEI
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.
Presence of a functionally relevant novel R110W mutation in the DNA binding domain of GCMB gene in patients with sporadic idiopathic hypoparathyroidism: a genetic marker of the disease.
Tomar N.; Bora H.; Gupta N.; Sharma Y.D.; Goswami R.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT FIH TRP-110;
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Bowl M.R.; Mirczuk S.M.; Grigorieva I.V.; Piret S.E.; Cranston T.; Southam L.; Allgrove J.; Bahl S.; Brain C.; Loughlin J.; Mughal Z.; Ryan F.; Shaw N.; Thakker Y.V.; Tiosano D.; Nesbit M.A.; Thakker R.V.;
Hum. Mol. Genet. 19:2028-2038(2010)
Cited for: VARIANTS FIH LEU-47 AND TRP-110; VARIANT ASP-282; CHARACTERIZATION OF VARIANTS FIH LEU-47 AND TRP-110; SUBCELLULAR LOCATION; FUNCTION;
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