Variant position: 47 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 QMPQELAL-FDQFREWPDGYV RFIYSSDEKKAQRHLSGWAMR
Mouse QMPQEPTH-FDHFREWPDGYV RFIYSSQEKKAQRHLSGWAM
Drosophila IVPHVPDQEFDEFNEWSDGHV RHIYSLHNEEAKKHISGWAM
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 – 506 Chorion-specific transcription factor GCMb
19 – 174 GCM
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
Baumber L.; Tufarelli C.; Patel S.; King P.; Johnson C.A.; Maher E.R.; Trembath R.C.;
J. Med. Genet. 42:443-448(2005)
Cited for: VARIANT FIH LEU-47; CHARACTERIZATION OF VARIANT FIH LEU-47;
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;
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.