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UniProtKB/Swiss-Prot O75603: Variant p.Arg110Trp

Chorion-specific transcription factor GCMb
Gene: GCM2
Chromosomal location: 6p23
Variant information

Variant position:  110
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Tryptophan (W) at position 110 (R110W, p.Arg110Trp).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Hypoparathyroidism, familial isolated (FIH) [MIM:146200]: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps. {ECO:0000269|PubMed:15728199, ECO:0000269|PubMed:15863676, ECO:0000269|PubMed:20190276, ECO:0000269|PubMed:20463099, ECO:0000269|PubMed:23155703, ECO:0000269|Ref.3}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In FIH; abolishes DNA binding ability.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   ACTLPDGSRLQLRPAICDKA  R LKQQKKACPNCHSALELIPC
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                         ACTLPDGSRLQLRPAICDKARLKQQKKACPN--CHSA-LELIPC

Mouse                         ACALKDGSHLQLRPAICDKARLKQQKKACPN--CHSP-LEL

Drosophila                    HCTLPNGSKINLRPAICDKARRKQEGKACPNKSCRGGRLEI

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.

TypePositionsDescription
Chain 1 – 506 Chorion-specific transcription factor GCMb
DNA binding 19 – 174 GCM
Metal binding 91 – 91 Zinc 2
Metal binding 118 – 118 Zinc 2
Metal binding 121 – 121 Zinc 2
Metal binding 130 – 130 Zinc 1


Literature citations

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;

Disclaimer: 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.