UniProtKB/Swiss-Prot P02452: Variant p.Arg574Cys

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

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

US 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 Arginine (R) to Cysteine (C) at position 574 (R574C, p.Arg574Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

Found in a patient with isolated osteopenia and vascular rupture; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs72648365 [ dbSNP | Ensembl ]

Sequence information Variant position:

574 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:

GPPGPAGQDGRPGPPGPPGA R GQAGVMGFPGPKGAAGEPGK 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                         GPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGK

                              GPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGK

Mouse                         GPPGPAGQDGRPGPAGPPGARGQAGVMGFPGPKGTAGEPGK

Rat                           GPPGPAGQDGRPGPAGPPGARGQAGVMGFPGPKGTAGEPGK

Bovine                        GPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGK

Chicken                       GPPGPAGQDGRPGPAGPPGARGQAGVMGFPGPKGAAGEPGK

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
Modified residue	556 – 556	4-hydroxyproline
Modified residue	565 – 565	4-hydroxyproline
Modified residue	571 – 571	4-hydroxyproline
Modified residue	583 – 583	4-hydroxyproline
Modified residue	592 – 592	4-hydroxyproline

Literature citations
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
Malfait F.; Symoens S.; De Backer J.; Hermanns-Le T.; Sakalihasan N.; Lapiere C.M.; Coucke P.; De Paepe A.;
Hum. Mutat. 28:387-395(2007)
Cited for: VARIANT EDSCL1 CYS-312; VARIANTS CYS-574 AND CYS-1093;

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.