Sequence information
Variant position: 22 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 546 The length of the canonical sequence.
Location on the sequence:
TPLVSRLSRLWAIMRKPRAA
V GSGHRKQAASQEGRQKHAKN
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 TPLVSRLSRLWAIMRKPRAAV GSGHRKQAASQEGRQKHAKN
Mouse -------------MKKLQASV RS-HKKQPANHKRRRTRALS
Rat -------------MKKLRASV RS-HKKQPANHKRRGKCALS
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 – 546
Adenine DNA glycosylase
Region
19 – 51
Disordered
Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MET-22; HIS-335; GLU-500; MET-526 AND GLN-531;
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
Sieber O.M.; Lipton L.; Crabtree M.; Heinimann K.; Fidalgo P.; Phillips R.K.S.; Bisgaard M.-L.; Orntoft T.F.; Aaltonen L.A.; Hodgson S.V.; Thomas H.J.W.; Tomlinson I.P.M.;
N. Engl. J. Med. 348:791-799(2003)
Cited for: VARIANTS FAP2 CYS-176 AND ASP-393; VARIANTS MET-22; HIS-335 AND PHE-512;
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.
Aceto G.; Curia M.C.; Veschi S.; De Lellis L.; Mammarella S.; Catalano T.; Stuppia L.; Palka G.; Valanzano R.; Tonelli F.; Casale V.; Stigliano V.; Cetta F.; Battista P.; Mariani-Costantini R.; Cama A.;
Hum. Mutat. 26:394-394(2005)
Cited for: VARIANTS FAP2 CYS-176; HIS-242; TRP-271; PRO-385; ASP-393; CYS-423 AND GLU-477 DEL; VARIANTS MET-22 AND HIS-335;
Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.
Lejeune S.; Guillemot F.; Triboulet J.P.; Cattan S.; Mouton C.; Porchet N.; Manouvrier S.; Buisine M.P.;
Hum. Mutat. 27:1064-1064(2006)
Cited for: VARIANTS FAP2 CYS-176; SER-177; VAL-280; LEU-292; PRO-385 AND ASP-393; VARIANTS MET-22; HIS-335 AND PHE-512;
Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.
Russell A.M.; Zhang J.; Luz J.; Hutter P.; Chappuis P.O.; Berthod C.R.; Maillet P.; Mueller H.; Heinimann K.;
Int. J. Cancer 118:1937-1940(2006)
Cited for: VARIANTS FAP2 ILE-TRP-148 INS; CYS-176; GLN-182; VAL-220; HIS-242 AND ASP-393; VARIANTS MET-22 AND HIS-335;
Functional complementation assay for 47 MUTYH variants in a MutY-disrupted Escherichia coli strain.
Komine K.; Shimodaira H.; Takao M.; Soeda H.; Zhang X.; Takahashi M.; Ishioka C.;
Hum. Mutat. 36:704-711(2015)
Cited for: CHARACTERIZATION OF VARIANTS FAP2 LEU-18; HIS-125; ARG-128; LEU-154; CYS-176; CYS-179; HIS-179; GLN-182; GLU-186; VAL-220; TRP-238; HIS-242; TRP-271; GLU-283; LEU-292; CYS-306; THR-377; PRO-385; ASP-393; LEU-402; MET-417; CYS-423; ASP-470; THR-470; GLU-477 DEL; THR-486 AND PHE-490; CHARACTERIZATION OF VARIANTS GASC SER-402 AND ARG-411; CHARACTERIZATION OF VARIANTS MET-22; ASP-25; ARG-100; ASN-102; VAL-224; MET-231; CYS-242; PHE-243; TRP-287; HIS-335; ARG-335; GLN-434; PRO-434; GLU-500; PHE-512; LEU-513; MET-526 AND GLN-531; FUNCTION; SUBCELLULAR LOCATION;
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.