Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02461: Variant p.Gly501Arg

Collagen alpha-1(III) chain
Gene: COL3A1
Feedback?
Variant information Variant position: help 501
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 501 (G501R, p.Gly501Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In EDSVASC.
Other resources: help


Sequence information Variant position: help 501
Protein sequence length: help 1466
Location on the sequence: help AAGERGAPGFRGPAGPNGIP G EKGPAGERGAPGPAGPRGAA
Residue conservation: help 
Human                         AAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAA

Mouse                         AAGERGPSGFRGPAGPNGIPGEKGPPGERGGPGPAGPRGVA

Rat                           NPGERGAPGFRGPAGPNGAPGEKGPAGERGGPGPAGPRGVA

Bovine                        AAGERGVPGFRGPAGANGLPGEKGPPGDRGGPGPAGPRGVA
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 488 – 488 4-hydroxyproline
Modified residue 500 – 500 4-hydroxyproline
Modified residue 512 – 512 4-hydroxyproline



Literature citations
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
Pepin M.; Schwarze U.; Superti-Furga A.; Byers P.H.;
N. Engl. J. Med. 342:673-680(2000)
Cited for: VARIANTS EDSVASC; VARIANTS EDSVASC ASP-183; SER-183; VAL-192; CYS-219; VAL-225; ARG-240; VAL-243; ASP-249; VAL-249; ASP-252; ARG-252; VAL-252; VAL-255; VAL-267; VAL-321; ARG-345; ARG-417; ARG-444; GLU-489; ARG-501; VAL-519; GLU-549; GLU-552; ASP-588; ARG-636; GLU-657; ASP-660; ARG-699; VAL-738; VAL-744; TRP-828; CYS-852; VAL-879; ASP-882; ASP-900; GLU-903; VAL-909; GLU-918; CYS-924; GLU-942; VAL-966; ALA-972; THR-984; ARG-999; GLU-1011; VAL-1032; CYS-1035; ASP-1089; VAL-1098; VAL-1161; ARG-1164; GLU-1164 AND VAL-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.