Variant position: 161 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 553 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 RDDKKPGKGSYWTLDPDSYN MFENGSFLRRRRRFKKKDAVK
Mouse RDDKKPGKGSYWTLDPDSYN MFENGSFLRRRRRFKKKDAVK
Xenopus tropicalis RDDKKPGKGSYWTLDPDSYN MFENGSFLRRRRRFKKKDVVK
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 – 553 Forkhead box protein C1
77 – 168 Fork-head
Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.
Komatireddy S.; Chakrabarti S.; Mandal A.K.; Reddy A.B.M.; Sampath S.; Panicker S.G.; Balasubramanian D.;
Mol. Vis. 9:43-48(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT RIEG3 LYS-161;
Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
Panicker S.G.; Sampath S.; Mandal A.K.; Reddy A.B.M.; Ahmed N.; Hasnain S.E.;
Invest. Ophthalmol. Vis. Sci. 43:3613-3616(2002)
Cited for: VARIANT RIEG3 LYS-161;
The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.
Murphy T.C.; Saleem R.A.; Footz T.; Ritch R.; McGillivray B.; Walter M.A.;
Invest. Ophthalmol. Vis. Sci. 45:2531-2538(2004)
Cited for: VARIANTS RIEG3 ARG-165 AND PRO-169; CHARACTERIZATION OF VARIANTS RIEG3 LYS-161; ARG-165 AND PRO-169; FUNCTION; SUBCELLULAR LOCATION;
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.
Khan A.O.; Aldahmesh M.A.; Al-Amri A.;
Ophthalmic Genet. 29:67-71(2008)
Cited for: VARIANT ASGD3 LYS-161;
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.