Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00918: Variant p.Gly144Arg

Carbonic anhydrase 2
Gene: CA2
Feedback?
Variant information Variant position: help 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Arginine (R) at position 144 (G144R, p.Gly144Arg). 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: help Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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
Variant description: help In OPTB3; complete loss of activity. Any additional useful information about the variant.


Sequence information Variant position: help 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 260 The length of the canonical sequence.
Location on the sequence: help NTKYGDFGKAVQQPDGLAVL G IFLKVGSAKPGLQKVVDVLD 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         NTK-YGDFGKAVQQPDGLAVLGIFLKVGSAKP-GLQKVVDVLD

Mouse                         NTK-YGDFGKAVQQPDGLAVLGIFLKIGPASQ-GLQKVLEA

Rat                           NTK-YGDFGKAVQHPDGLAVLGIFLKIGPASQ-GLQKITEA

Bovine                        NTK-YGDFGTAAQQPDGLAVVGVFLKVGDANP-ALQKVLDA

Rabbit                        NTK-YGDFGKAVKHPDGLAVLGIFLKIGSATP-GLQKVVDT

Sheep                         NTK-YGDFGTAAQQPDGLAVVGVFLKVGDANP-ALQKVLDV

Chicken                       NVK-YGKFAEALKHPDGLAVVGIFMKVGNAKP-EIQKVVDA

Caenorhabditis elegans        NSALYPNFSVAMTSPRGLLAVSVIVDIGKTTSVELRRLTVA
Sequence annotation in neighborhood: help 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 2 – 260 Carbonic anhydrase 2
Domain 3 – 259 Alpha-carbonic anhydrase
Mutagenesis 142 – 142 V -> FY. Strongly impaired activity.
Mutagenesis 142 – 142 V -> G. Weakly impaired activity.
Mutagenesis 142 – 142 V -> H. Impaired activity.
Beta strand 139 – 151



Literature citations
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Shah G.N.; Bonapace G.; Hu P.Y.; Strisciuglio P.; Sly W.S.;
Hum. Mutat. 24:272-272(2004)
Cited for: VARIANTS OPTB3 PRO-92; TYR-94; TYR-107 AND ARG-144; FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS TYR-94 AND ARG-144;
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.