Variant position: 231 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 297 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 TYKAYEQKPADLLMEK---LEQD FVSRVTECLTTVKSVNKTDSQ
Mouse TYKAYEQKPADLLMEK---LEQN FLSRATECLTTVKSVNKT
Bovine TYKAYEQKPADLLMEK---LEQD FVSRVTECLTTVKSVNKT
Slime mold AYKTFNNRAPDPIKARAQPIELG GKSKNEQVLTSIKSVNKT
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
1 – 297 DNA excision repair protein ERCC-1
220 – 297 HhH2, dimerization with ERCC4
243 – 243 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
Jaspers N.G.J.; Raams A.; Silengo M.C.; Wijgers N.; Niedernhofer L.J.; Robinson A.R.; Giglia-Mari G.; Hoogstraten D.; Kleijer W.J.; Hoeijmakers J.H.J.; Vermeulen W.;
Am. J. Hum. Genet. 80:457-466(2007)
Cited for: VARIANT COFS4 LEU-231;
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K.; Nakazawa Y.; Pilz D.T.; Guo C.; Shimada M.; Sasaki K.; Fawcett H.; Wing J.F.; Lewin S.O.; Carr L.; Li T.S.; Yoshiura K.; Utani A.; Hirano A.; Yamashita S.; Greenblatt D.; Nardo T.; Stefanini M.; McGibbon D.; Sarkany R.; Fassihi H.; Takahashi Y.; Nagayama Y.; Mitsutake N.; Lehmann A.R.; Ogi T.;
Am. J. Hum. Genet. 92:807-819(2013)
Cited for: VARIANT COFS4 LEU-231; CHARACTERIZATION OF VARIANT COFS4 LEU-231;
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.