Sequence information
Variant position: 236 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:
SVSSEQVLKFRKLNFNGEGE
P EELMVDNWRPAQPLKNRQIK
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 SVSSEQVLKFRKLNFNGEGEP E-ELMVDNWRPAQPLKNRQIK
Mouse TVSSEQMSHFRTLNFNEEGDA E-EAMVDNWRPAQPLKNRKI
Rat TVSSEQMSHFRKLNFNSEGEA E-ELMVDNWRPAQPLKNRKI
Bovine SVSSQQMLKFRTLNFNAEGEP E-LLMLANWRPAQPLKNRQV
Rabbit TVSSEQMLKFRNLNFNKEAEP E-EPMVDNWRPTQPLKGRQV
Sheep SVSSQQMLKFRSLNFNAEGEP E-LLMLANWRPAQPLKNRQV
Chicken TVSSEQMCKLRGLCFSAENEP V-CRMVDNWRPCQPLKSREV
Caenorhabditis elegans YITNDDLQIWNEMQKTETKQP EPSYMTPAYRPLKSLNGRLV
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
Chain
2 – 260
Carbonic anhydrase 2
Domain
3 – 259
Alpha-carbonic anhydrase
Literature citations
A chemical and enzymological comparison of the common major human erythrocyte carbonic anhydrase II, its minor component, and a new genetic variant, CA II Melbourne (237 Pro leads to His).
Jones G.L.; Shaw D.C.;
Hum. Genet. 63:392-399(1983)
Cited for: VARIANT MELBOURNE HIS-236;
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.