Variant position: 18 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 MLPQIPFLLLVSLNLVH GV--FYAERYQMPTGIKGPLPNT
Mouse MLPQIPFLLLMFLTLVH GM--FYAERYQTPTGIKGPLA
Bovine MLPQTALLLLMSLNLVH GV--FYTERYQTPTGIKGPPS
Chicken MHLQISLLLLFCLNIVH GSDGYFSERYQKQSSIKGPP-
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 – 18
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia.
Ikegawa S.; Nakamura K.; Nagano A.; Haga N.; Nakamura Y.;
Hum. Mutat. 9:131-135(1997)
Cited for: VARIANTS SMCD GLU-18 AND ARG-18;
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;
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