Sequence information
Variant position: 2824 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3056 The length of the canonical sequence.
Location on the sequence:
KMMEVQKKSFEEKYEVFMDV
C QNFQPVFRYFCMEKFLDPAI
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 KMMEVQKKSFEEKYEVFMDVC QNFQPVFRYFCMEKFLDPAI
Mouse KMMEVQKKSFEEKYDTFMTIC QNFEPVFRYFCMEKFLDPAV
Pig KMMEAQNKSFEEKYEIFMNIC QNFQPVFRYFCMEKFLDPAV
Caenorhabditis elegans MMRQVQTESTETRRQVFVEIC QQYSPVFRHFFYTNFSTAQI
Drosophila LSSDHLKSPKETRYAIYKKIC ENIKPVFHYFLLEKFPIPGV
Baker's yeast GMKAVQTKSNEERLKAYLKIT NEIKPQLRNFFFDSFPDPLD
Fission yeast LIAEKQMEDLETRLKVYDLVC RHYRPVFRHFFLESYADPVQ
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.
Literature citations
Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.
Watters D.; Khanna K.K.; Beamish H.; Birrell G.; Spring K.; Kedar P.; Gatei M.; Stenzel D.; Hobson K.; Kozlov S.; Zhang N.; Farrell A.; Ramsay J.; Gatti R.A.; Lavin M.F.;
Oncogene 14:1911-1921(1997)
Cited for: SUBCELLULAR LOCATION; VARIANTS 2546-SER--ILE-2548 DEL AND TYR-2824;
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.