Variant position: 33 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 115 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 KGRGHVQPIRCTNCARCVPK DKAIKKFVIRNIVEAAAVRDI
Mouse KGRGHVQPIRCTNCARCVPK DKAIKKFVIRNIVEAAAVRDI
Rat KGRGHVQPIRCTNCARCVPK DKAIKKFVIRNIVEAAAVRDI
Pig KGRGHVQPIRCTNCARCVPK DKAIKKFVIRNIVEAAAVRDI
Bovine KGRGHVQPIRCTNCARCVPK DKAIKKFVIRNIVEAAAVRDI
Sheep KGRGHVQPIRCTNCARCVPK DKAIKKFVIRNIVEAAAVRDI
Caenorhabditis elegans KNRGHVAFIRCTNCGRCCPK DKAIKKFVVRNIVEAAAVRDI
Drosophila HNRGHVKPVRCTNCARCVPK DKAIKKFVIRNIVEAAAVRDI
Slime mold HGRGSVPYIRCTNCARCVPK DKAVKRFYIRPIVENAAVKDI
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 – 115 40S ribosomal protein S26
32 – 34
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L.; Sheen M.R.; Vlachos A.; Choesmel V.; O'Donohue M.F.; Clinton C.; Schneider H.E.; Sieff C.A.; Newburger P.E.; Ball S.E.; Niewiadomska E.; Matysiak M.; Glader B.; Arceci R.J.; Farrar J.E.; Atsidaftos E.; Lipton J.M.; Gleizes P.E.; Gazda H.T.;
Am. J. Hum. Genet. 86:222-228(2010)
Cited for: INVOLVEMENT IN DBA10; VARIANTS DBA10 ASN-33 AND THR-115;
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.