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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02461: Variant p.Gly942Glu

Collagen alpha-1(III) chain
Gene: COL3A1
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Variant information Variant position: help 942
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Glutamate (E) at position 942 (G942E, p.Gly942Glu).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (E)
BLOSUM score: help -2
Variant description: help In EDSVASC.
Other resources: help


Sequence information Variant position: help 942
Protein sequence length: help 1466
Location on the sequence: help PKGDAGQPGEKGSPGAQGPP G APGPLGIAGITGARGLAGPP
Residue conservation: help 
Human                         PKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAGPP

Mouse                         PKGDAGQPGEKGPPGAQGPPGSPGPLGIAGLTGARGLAGPP

Rat                           PKGDAGQPGEKGPPGAQGPPGSPGPLGIAGLTGARGLAGPP

Bovine                        PKGDSGPPGERGAPGPQGPPGAPGPLGIAGLTGARGLAGPP
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 929 – 929 4-hydroxyproline
Modified residue 935 – 935 4-hydroxyproline
Modified residue 941 – 941 4-hydroxyproline
Modified residue 944 – 944 4-hydroxyproline
Modified residue 962 – 962 4-hydroxyproline
Alternative sequence 847 – 1149 Missing. In isoform 2.



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.