Variant position: 35 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 411 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 AAMDAYYSPVSQSREGSSPF RAFPGGDKFGTTFLSAAAKAQ
Mouse AAMDAYYSPVSQSREGSSPF RGFPGGDKFGTTFLSAGAKGQ
Bovine AAMDAYYSPVSQSREGSSPF RAYPGGDKFSTTFLSAAAKGQ
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 – 411 Homeobox protein aristaless-like 4
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).
Wuyts W.; Cleiren E.; Homfray T.; Rasore-Quartino A.; Vanhoenacker F.; Van Hul W.;
J. Med. Genet. 37:916-920(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT THR-35; VARIANT PFM2 PRO-272;
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
Mavrogiannis L.A.; Antonopoulou I.; Baxova A.; Kutilek S.; Kim C.A.; Sugayama S.M.; Salamanca A.; Wall S.A.; Morriss-Kay G.M.; Wilkie A.O.M.;
Nat. Genet. 27:17-18(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS THR-35 AND SER-102; VARIANT PFM2 GLN-218;
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.