Sequence information
Variant position: 76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 467 The length of the canonical sequence.
Location on the sequence:
IFKAWAVETGKYQEGVDDPD
P AKWKAQLRCALNKSREFNLM
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 IFKAWAVETGKYQEGVDDPDP AKWKAQLRCALNKSREFNLM
Mouse IFKAWAVETGKYQEGVDDPDP AKWKAQLRCALNKSREFNLM
Bovine IFKAWAVETGKYQEGVDDPDP AKWKAQLRCALNKSREFNLM
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 – 467
Interferon regulatory factor 6
DNA binding
7 – 115
IRF tryptophan pentad repeat
Alternative sequence
1 – 95
Missing. In isoform 2.
Literature citations
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Kondo S.; Schutte B.C.; Richardson R.J.; Bjork B.C.; Knight A.S.; Watanabe Y.; Howard E.; de Lima R.L.L.; Daack-Hirsch S.; Sander A.; McDonald-McGinn D.M.; Zackai E.H.; Lammer E.J.; Aylsworth A.S.; Ardinger H.H.; Lidral A.C.; Pober B.R.; Moreno L.; Arcos-Burgos M.; Valencia C.; Houdayer C.; Bahuau M.; Moretti-Ferreira D.; Richieri-Costa A.; Dixon M.J.; Murray J.C.;
Nat. Genet. 32:285-289(2002)
Cited for: VARIANTS VWS1 VAL-2; ALA-18; MET-18; ALA-39; GLY-61; ARG-70; SER-76; HIS-88; GLY-90; HIS-98; GLN-250; ARG-273; 290-PHE--ASP-296 DELINS LEU; PRO-294; ILE-297; GLU-320; MET-321; GLU-325; PRO-345; PHE-347; SER-369; TRP-374 AND GLU-388; VARIANTS PPS GLY-60; THR-66; LYS-82; CYS-84; HIS-84; GLU-89 AND ASN-430; VARIANT ILE-274;
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
Little H.J.; Rorick N.K.; Su L.-I.; Baldock C.; Malhotra S.; Jowitt T.; Gakhar L.; Subramanian R.; Schutte B.C.; Dixon M.J.; Shore P.;
Hum. Mol. Genet. 18:535-545(2009)
Cited for: CHARACTERIZATION OF VARIANTS VWS1/PPS ALA-18; MET-18; PRO-22; GLY-60; ARG-70; SER-76; CYS-84; GLY-84; HIS-84; GLU-89 AND HIS-98;
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.