Variant position: 172 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 267 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 SQLLALERKFRQKQYLSIAE RAEFSSSLNLTETQVKIWFQN
Gorilla SQLLALERKFRQKQYLSIAE RAEFSSSLNLTETQVKIWFQN
Chimpanzee SQLLALERKFRQKQYLSIAE RAEFSSSLNLTETQVKIWFQN
Mouse SQLLALERKFRQKQYLSIAE RAEFSSSLNLTETQVKIWFQN
Bovine SQLLALERKFRQKQYLSIAE RAEFSSSLNLTETQVKIWFQN
Dog SQLLALERKFRQKQYLSIAE RAEFSSSLNLTETQVKIWFQN
Chicken SQLLALERKFRQKQYLSIAE RAEFSSSLNLTETQVKIWFQN
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 – 267 Homeobox protein MSX-2
142 – 201 Homeobox
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.
Wuyts W.; Reardon W.; Preis S.; Homfray T.; Rasore-Quartino A.; Christians H.; Willems P.J.; Van Hul W.;
Hum. Mol. Genet. 9:1251-1255(2000)
Cited for: VARIANTS PFM1 PRO-154 AND HIS-172;
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.
Wilkie A.O.M.; Tang Z.; Elanko N.; Walsh S.; Twigg S.R.F.; Hurst J.A.; Wall S.A.; Chrzanowska K.H.; Maxson R.E. Jr.;
Nat. Genet. 24:387-390(2000)
Cited for: VARIANTS PFM1 159-ARG-LYS-160 DEL AND HIS-172; VARIANT THR-129;
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.