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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02461: Variant p.Gly1170Asp

Collagen alpha-1(III) chain
Gene: COL3A1
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Variant information Variant position: help 1170
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Aspartate (D) at position 1170 (G1170D, p.Gly1170Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Variant description: help In EDSVASC.
Other resources: help


Sequence information Variant position: help 1170
Protein sequence length: help 1466
Location on the sequence: help KDGTSGHPGPIGPPGPRGNR G ERGSEGSPGHPGQPGPPGPP
Residue conservation: help
Human                         KDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPP

Mouse                         KDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPP

Rat                           KDGSSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPP

Bovine                        KDGASGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPP

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 154 – 1221 Collagen alpha-1(III) chain
Region 95 – 1194 Disordered
Region 168 – 1196 Triple-helical region
Modified residue 1157 – 1157 4-hydroxyproline
Modified residue 1163 – 1163 4-hydroxyproline
Modified residue 1178 – 1178 4-hydroxyproline
Modified residue 1181 – 1181 4-hydroxyproline
Modified residue 1184 – 1184 4-hydroxyproline
Modified residue 1187 – 1187 4-hydroxyproline
Modified residue 1190 – 1190 4-hydroxyproline



Literature citations
Substitution of glycines 1000, 1003 and 1006 in type III collagen all cause the acrogeric form of EDS-IV, and destabilise the collagen triple helix.
Richards A.J.; Narcisi P.; Lloyd J.C.; Johnson P.H.; Hopkinson D.A.; Pope F.M.;
Cited for: VARIANTS EDSVASC VAL-1167; ASP-1170 AND GLU-1173; Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.
Mackay K.; Raghunath M.; Superti-Furga A.; Steinmann B.; Dalgleish R.;
Clin. Genet. 49:286-295(1996)
Cited for: VARIANTS EDSVASC GLU-567; CYS-762 AND ASP-1170;
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.