UniProtKB/Swiss-Prot P02452: Variant p.Gln1391Lys

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

1391 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 Glutamine (Q) to Lysine (K) at position 1391 (Q1391K, p.Gln1391Lys). 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 polar (Q) to large size and basic (K) 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 rs2586486 [ dbSNP | Ensembl ]

Sequence information Variant position:

1391 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:

KNSVAYMDQQTGNLKKALLL Q GSNEIEIRAEGNSRFTYSVT 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                         KNSVAYMDQQTGNLKKALLLQGSNEIEIRAEGNSRFTYSVT

                              KNSVAYMDQQTGNLKKALLLQGSNEIEIRAEGNSRFTYSVT

Mouse                         KNSVAYMDQQTGNLKKALLLQGSNEIELRGEGNSRFTYSTL

Rat                           KNSVAYMDQQTGNLKKSLLLQGSNEIELRGEGNSRFTYSTL

Bovine                        KNSVAYMDQQTGNLKKALLLQGSNEIEIRAEGNSRFTYSVT

Chicken                       KNSVAYMDHDTGNLKKALLLQGANEIEIRAEGNSRFTYGVT

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
Propeptide	1219 – 1464	C-terminal propeptide
Domain	1229 – 1464	Fibrillar collagen NC1
Disulfide bond	1299 – 1462
Disulfide bond	1370 – 1415
Beta strand	1389 – 1391

Literature citations
Submission
Dalgleish R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ALA-1019; LYS-1391 AND SER-1434; Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.
Korkko J.M.; Ala-Kokko L.; De Paepe A.; Nuytinck L.; Earley J.J.; Prockop D.J.;
Am. J. Hum. Genet. 62:98-110(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT LYS-1391; Human pro alpha 1(I) collagen: cDNA sequence for the C-propeptide domain.
Maekelae J.K.; Raassina M.; Virta A.; Vuorio E.;
Nucleic Acids Res. 16:349-349(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1229-1454; VARIANT LYS-1391;

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.