Variant position: 111 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 235 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 GKRLGDT-FVLTLSDFRRENE GYYFCSALSNSIMYFSHFVPV
Mouse AMRDTNNKYVLTLNKFSKENE GYYFCSVISNSVMYFSSVVP
Rat A-RKENNKYILTLSKFSTKNQ GYYFCSITSNSVMYFSPLVP
Bovine GAKVSGTKFQLTLSSFLQEDQ GYYFCSVVSNSILYFSNFVP
Cat GQRIQDTLYSLTLHRFRKEEE GYYFCSVVSNSVLYFSAFVP
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
22 – 235 T-cell surface glycoprotein CD8 alpha chain
22 – 182 Extracellular
22 – 135 Ig-like V-type
43 – 115
111 – 111 G -> R. Prevents CD8 expression.
111 – 119
Familial CD8 deficiency due to a mutation in the CD8 alpha gene.
de la Calle-Martin O.; Hernandez M.; Ordi J.; Casamitjana N.; Arostegui J.I.; Caragol I.; Ferrando M.; Labrador M.; Rodriguez-Sanchez J.L.; Espanol T.;
J. Clin. Invest. 108:117-123(2001)
Cited for: VARIANT CD8 DEFICIENCY SER-111; MUTAGENESIS OF GLY-111;
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.