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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22748: Variant p.Arg69His

Carbonic anhydrase 4
Gene: CA4
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Variant information Variant position: help 69 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 Arginine (R) to Histidine (H) at position 69 (R69H, p.Arg69His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 RP17; has no effect on carbonate dehydratase activity; loss of interaction with SLC4A4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 312 The length of the canonical sequence.
Location on the sequence: help DRQSPINIVTTKAKVDKKLG R FFFSGYDKKQTWTVQNNGHS 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                         DRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHS

Mouse                         NQQSPINIVTARTKVNPRLTPFILVGYDQKQQWPIKNNQHT

Rat                           NQQSPINIVTSKTKLNPSLTPFTFVGYDQKKKWEVKNNQHS

Bovine                        NRQSPVNIVTAKTQLDPNLGRFSFSGYNMKHQWVVQNNGHT

Rabbit                        SRQSPINIVTTKAEVDHSLGRFHFSGYDQREARLVENNGHS
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 19 – 284 Carbonic anhydrase 4
Domain 21 – 285 Alpha-carbonic anhydrase
Active site 88 – 88 Proton donor/acceptor
Disulfide bond 46 – 229



Literature citations
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
Alvarez B.V.; Vithana E.N.; Yang Z.; Koh A.H.; Yeung K.; Yong V.; Shandro H.J.; Chen Y.; Kolatkar P.; Palasingam P.; Zhang K.; Aung T.; Casey J.R.;
Invest. Ophthalmol. Vis. Sci. 48:3459-3468(2007)
Cited for: INTERACTION WITH SLC4A4; VARIANT RP17 HIS-69; VARIANT LYS-177; CHARACTERIZATION OF VARIANT RP17 HIS-69; FUNCTION; CATALYTIC ACTIVITY;
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.