Variant position: 27 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 680 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 FLLLVSLNLVHGV--FYAERYQ MPTGIKGPLPNTKTQFFIPYT
Mouse FLLLMFLTLVHGM--FYAERYQ TPTGIKGPLASPKTQYFIP
Bovine LLLLMSLNLVHGV--FYTERYQ TPTGIKGPPSNTKTQFFIP
Chicken LLLLFCLNIVHGSDGYFSERYQ KQSSIKGPP------HFLP
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
19 – 680 Collagen alpha-1(X) chain
19 – 56 Nonhelical region (NC2)
The human collagen X gene. Complete primary translated sequence and chromosomal localization.
Thomas J.T.; Cresswell C.J.; Rash B.; Nicolai H.; Jones T.; Solomon E.; Grant M.E.; Boot-Handford R.P.;
Biochem. J. 280:617-623(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT THR-27;
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
Bateman J.F.; Wilson R.; Freddi S.; Lamande S.R.; Savarirayan R.;
Hum. Mutat. 25:525-534(2005)
Cited for: VARIANTS SMCD ARG-18; GLU-18; ASP-582; ARG-591; ARG-595; GLU-595; HIS-597; CYS-597; ASP-598; PRO-600; PRO-614; LYS-617; VAL-618; ARG-644; GLY-648; ARG-651; PRO-653 AND PRO-671; VARIANTS THR-27; HIS-198; ARG-545 AND MET-603;
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.