Variant position: 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 260 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 NTK-YGDFGKAVQQPDGLAVL GIFLKVGSAKP-GLQKVVDVLD
Mouse NTK-YGDFGKAVQQPDGLAVL GIFLKIGPASQ-GLQKVLEA
Rat NTK-YGDFGKAVQHPDGLAVL GIFLKIGPASQ-GLQKITEA
Bovine NTK-YGDFGTAAQQPDGLAVV GVFLKVGDANP-ALQKVLDA
Rabbit NTK-YGDFGKAVKHPDGLAVL GIFLKIGSATP-GLQKVVDT
Sheep NTK-YGDFGTAAQQPDGLAVV GVFLKVGDANP-ALQKVLDV
Chicken NVK-YGKFAEALKHPDGLAVV GIFMKVGNAKP-EIQKVVDA
Caenorhabditis elegans NSALYPNFSVAMTSPRGLLAV SVIVDIGKTTSVELRRLTVA
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
2 – 260 Carbonic anhydrase 2
3 – 259 Alpha-carbonic anhydrase
142 – 142 V -> FY. Strongly impaired activity.
142 – 142 V -> G. Weakly impaired activity.
142 – 142 V -> H. Impaired activity.
139 – 151
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; CHARACTERIZATION OF VARIANTS TYR-94 AND ARG-144;
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.