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UniProtKB/Swiss-Prot P02452: Variant p.Thr1075Ala

Collagen alpha-1(I) chain
Gene: COL1A1
Chromosomal location: 17q21.3-q22
Variant information

Variant position:  1075
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Threonine (T) to Alanine (A) at position 1075 (T1075A, p.Thr1075Ala).
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 (T) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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.



Sequence information

Variant position:  1075
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:   GPVGPAGKSGDRGETGPAGP  T GPVGPVGARGPAGPQGPRGD
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                         GPVGPAGKSGDRGETGPAGPTGPVGPVGARGPAGPQGPRGD

                              GPVGPAGKNGDRGETGPAGPAGPIGPVGARGPAGPQGPRGD

Mouse                         GPVGPAGKNGDRGETGPAGPAGPIGPAGARGPAGPQGPRGD

Rat                           GPVGPAGKNGDRGETGPAGPAGPIGPAGARGPAGPQGPRGD

Bovine                        GPVGPAGKSGDRGETGPAGPAGPIGPVGARGPAGPQGPRGD

Chicken                       GPVGPAGKNGDRGETGPAGPAGPPGPAGARGPAGPQGPRGD

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.

TypePositionsDescription
Chain 162 – 1218 Collagen alpha-1(I) chain
Region 179 – 1192 Triple-helical region


Literature citations

Submission
Dalgleish R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ALA-1019; ALA-1075; 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]; VARIANTS ALA-1075 AND LYS-1391;

Submission
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-1075;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ALA-1075; ARG-1438 AND HIS-1460;

Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution.
Bernard M.P.; Chu M.-L.; Myers J.C.; Ramirez F.; Eikenberry E.F.; Prockop D.J.;
Biochemistry 22:5213-5223(1983)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 425-1464; VARIANTS ALA-1019 AND ALA-1075;

Submission
Lubec G.; Chen W.-Q.; Sun Y.;
Cited for: PROTEIN SEQUENCE OF 1063-1084; IDENTIFICATION BY MASS SPECTROMETRY; VARIANT ALA-1075;

Highly conserved sequences in the 3'-untranslated region of the COL1A1 gene bind cell-specific nuclear proteins.
Maatta A.; Bornstein P.; Penttinen R.P.;
FEBS Lett. 279:9-13(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1454-1464; VARIANT ALA-1075;

G to A polymorphism in exon 45 of the COL1A1 gene.
Sokolov B.P.; Constantinou C.D.; Tsuneyoshi T.; Zhuang J.; Prockop D.J.;
Nucleic Acids Res. 19:4302-4302(1991)
Cited for: VARIANT ALA-1075;

Natural variation in four human collagen genes across an ethnically diverse population.
Chan T.F.; Poon A.; Basu A.; Addleman N.R.; Chen J.; Phong A.; Byers P.H.; Klein T.E.; Kwok P.Y.;
Genomics 91:307-314(2008)
Cited for: VARIANTS ALA-1075; GLN-1141 AND ILE-1177;

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; VARIANT ALA-1075;

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.