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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02452: Variant p.Asp1413Asn

Collagen alpha-1(I) chain
Gene: COL1A1
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Variant information Variant position: help 1413 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Aspartate (D) to Asparagine (N) at position 1413 (D1413N, p.Asp1413Asn). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In OI2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1413 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1464 The length of the canonical sequence.
Location on the sequence: help SNEIEIRAEGNSRFTYSVTV D GCTSHTGAWGKTVIEYKTTK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTK

                              SNEIEIRAEGNSRFTYSVTYDGCTSHTGAWGKTVIEYKTTK

Mouse                         SNEIELRGEGNSRFTYSTLVDGCTSHTGTWGKTVIEYKTTK

Rat                           SNEIELRGEGNSRFTYSTLVDGCTSHTGTWGKTVIEYKTTK

Bovine                        SNEIEIRAEGNSRFTYSVTYDGCTSHTGAWGKTVIEYKTTK

Chicken                       ANEIEIRAEGNSRFTYGVTEDGCTSHTGAWGKTVIEYKTTK
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Propeptide 1219 – 1464 C-terminal propeptide
Domain 1229 – 1464 Fibrillar collagen NC1
Disulfide bond 1299 – 1462
Disulfide bond 1370 – 1415
Beta strand 1409 – 1413



Literature citations
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Pollitt R.; McMahon R.; Nunn J.; Bamford R.; Afifi A.; Bishop N.; Dalton A.;
Hum. Mutat. 27:716-716(2006)
Cited for: VARIANTS OI2 ARG-22; ARG-581; VAL-734 AND ASN-1413; VARIANTS OI4 ARG-197 AND CYS-338; VARIANTS OI1 VAL-320; ARG-555; SER-647 AND GLU-1219; VARIANTS ALA-205; LYS-288; SER-906 AND HIS-1356; Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian D.L.; Chan T.F.; Poon A.; Schwarze U.; Yang K.; Byers P.H.; Kwok P.Y.; Klein T.E.;
Hum. Mol. Genet. 18:463-471(2009)
Cited for: VARIANTS OI2 THR-146; VAL-288; ASP-353; VAL-368; THR-390; SER-425; ASP-455; VAL-470; VAL-509; ALA-548; ARG-602; ASP-605; ARG-614; ARG-740; SER-809; ARG-824; ARG-845; ARG-848; HIS-855; SER-866; SER-875; SER-884; ASP-896; CYS-947; ASP-977; CYS-1001; VAL-1022; ALA-PRO-GLY-1052 INS; ASP-1055; SER-1094; ASP-1100 AND ASN-1413;
Disclaimer: 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.