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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02388: Variant p.Gly2043Trp

Collagen alpha-1(VII) chain
Gene: COL7A1
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Variant information Variant position: help 2043
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Tryptophan (W) at position 2043 (G2043W, p.Gly2043Trp).
Physico-chemical properties: help Change from glycine (G) to large size and aromatic (W)
BLOSUM score: help -2
Variant description: help In DDEB; localized type.
Other resources: help


Sequence information Variant position: help 2043
Protein sequence length: help 2944
Location on the sequence: help ERGPPGPSGLAGEPGKPGIP G LPGRAGGVGEAGRPGERGER
Residue conservation: help 
Human                         ERGPPGPSGLAGEPGKPGIPGLPGRAGGVGEAGRPGERGER

Mouse                         ERGPPGPPGLAGEPGKPGIPGLPGRAGGSGEAGRPGERGER
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 17 – 2944 Collagen alpha-1(VII) chain
Region 1254 – 2784 Triple-helical region
Region 1963 – 2782 Disordered
Modified residue 2036 – 2036 4-hydroxyproline
Modified residue 2039 – 2039 4-hydroxyproline



Literature citations
Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.
Mecklenbeck S.; Hammami-Hauasli N.; Hoepfner B.; Schumann H.; Kramer A.; Kuester W.; Bruckner-Tuderman L.;
J. Invest. Dermatol. 112:398-400(1999)
Cited for: VARIANTS DDEB ASP-2006; GLU-2015; ARG-2034; TRP-2034; ARG-2043 AND TRP-2043; VARIANTS RDEB CYS-2008; GLY-2008 AND ARG-2009;
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.