Sequence information
Variant position: 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 156 The length of the canonical sequence.
Location on the sequence:
IQVMMMGSARVAELLLLHGA
E PNCADPATLTRPVHDAAREG
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 IQVMMMGSARVAELLLLHGAE PNCADPATLTRPVHDAAREG
Mouse IQVMMMGNVHVAALLLNYGAD SNCEDPTTFSRPVHDAAREG
Rat IQVMMMGNVKVAALLLSYGAD SNCEDPTTLSRPVHDAAREG
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
1 – 156
Cyclin-dependent kinase inhibitor 2A
Repeat
44 – 72
ANK 2
Alternative sequence
52 – 116
MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVD -> GRGSAAGAGDGGRLWRTKFAGELESGSASILRKKGRLPGEFSEGVCNHRPPPGDALGAWEAKEEE. In isoform 3.
Literature citations
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
Kannengiesser C.; Brookes S.; del Arroyo A.G.; Pham D.; Bombled J.; Barrois M.; Mauffret O.; Avril M.F.; Chompret A.; Lenoir G.M.; Sarasin A.; Peters G.; Bressac-de Paillerets B.;
Hum. Mutat. 30:564-574(2009)
Cited for: VARIANTS CMM2 THR-ALA-19 INS; VAL-35; ARG-67; 67-GLY--ASN-71 DEL; TYR-74; PRO-77; PRO-80; THR-81 AND ARG-97; VARIANTS GLN-24; GLY-69 AND SER-114; CHARACTERIZATION OF VARIANTS;
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.