UniProtKB/Swiss-Prot P02452: Variant p.Pro205Ala

Collagen alpha-1(I) chain
Gene: COL1A1
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Variant information Variant position:

205 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Proline (P) to Alanine (A) at position 205 (P205A, p.Pro205Ala). 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:

Change from medium size and hydrophobic (P) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Other resources:

Links to websites of interest for the variant.

Variant rs72667032 [ dbSNP | Ensembl ]

Sequence information Variant position:

205 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1464 The length of the canonical sequence.
Location on the sequence:

GPRGLPGPPGAPGPQGFQGP P GEPGEPGASGPMGPRGPPGP 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                         GPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGP

                              GPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGP

Mouse                         GPRGLPGPPGAPGPQGFQGPPGEPGEPGGSGPMGPRGPPGP

Rat                           GPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGP

Bovine                        GPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGP

Chicken                       GPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPAGP

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
Chain	162 – 1218	Collagen alpha-1(I) chain
Region	98 – 1214	Disordered
Region	179 – 1192	Triple-helical region
Compositional bias	183 – 226	Pro residues
Modified residue	190 – 190	4-hydroxyproline
Modified residue	193 – 193	4-hydroxyproline
Modified residue	196 – 196	4-hydroxyproline
Modified residue	205 – 205	4-hydroxyproline
Modified residue	208 – 208	4-hydroxyproline
Modified residue	211 – 211	4-hydroxyproline

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;

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.