Variant position: 120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 303 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 PGSLGAPDAPSSPRPLGHFS VGGLLKLPEDALVKAESPEKP
Rhesus macaque PGSLGAPDAPSSPRPLGHFS VGGLLKLPEDALVKAESPEKP
Chimpanzee PGSLGAPDAPSSPRPLGHFS VGGLLKLPEDALVKAESPEKP
Mouse PGSLGAPDAPSSPRPLGHFS VGGLLKLPEDALVKAESPEKL
Bovine PGSLAAPDAPSSPRPLGHFS VGGLLKLPEDALVKAESPEKP
Chicken DGGTDVAAPSRRPLPVRR-- --GAGQAARGRAAQSREPREA
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 – 303 Homeobox protein MSX-1
133 – 133 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.
Jezewski P.A.; Vieira A.R.; Nishimura C.; Ludwig B.; Johnson M.; O'Brien S.E.; Daack-Hirsch S.; Schultz R.E.; Weber A.; Nepomucena B.; Romitti P.A.; Christensen K.; Orioli I.M.; Castilla E.E.; Machida J.; Natsume N.; Murray J.C.;
J. Med. Genet. 40:399-407(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; FUNCTION; VARIANTS OFC5 VAL-84; ASP-97; GLY-120; GLU-122 AND SER-157;
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.