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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P37023: Variant p.Glu111Asp

Activin receptor type-1-like
Gene: ACVRL1
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Variant information Variant position: help 111
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Aspartate (D) at position 111 (E111D, p.Glu111Asp).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score: help 2
Variant description: help No loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately.
Other resources: help


Sequence information Variant position: help 111
Protein sequence length: help 503
Location on the sequence: help DSHLCNHNVSLVLEATQPPS E QPGTDGQLALILGPVLALLA
Residue conservation: help 
Human                         DSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLA

Mouse                         YRSFCNHNVSLMLEATQTPSEEPEVDAHLPLILGPVLALPV

Rat                           YRSFCNHNVSLMLEATQTPSEEPEVDAHLPLILGPVLALLV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 22 – 503 Activin receptor type-1-like
Topological domain 22 – 118 Extracellular
Glycosylation 98 – 98 N-linked (GlcNAc...) asparagine



Literature citations
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by hereditary hemorrhagic telangiectasia.
Alaa El Din F.; Patri S.; Thoreau V.; Rodriguez-Ballesteros M.; Hamade E.; Bailly S.; Gilbert-Dussardier B.; Abou Merhi R.; Kitzis A.;
PLoS ONE 10:E0132111-E0132111(2015)
Cited for: VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443; VARIANTS ASP-111 AND PHE-417; CHARACTERIZATION OF VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443; CHARACTERIZATION OF VARIANTS ASP-111 AND PHE-417; FUNCTION; SUBCELLULAR LOCATION;
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.