UniProtKB/SwissProt variant VAR

Adhesion G-protein coupled receptor D1
Gene: ADGRD1
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Variant information Variant position:

110
Type of variant:

LB/B
Residue change:

From Phenylalanine (F) to Leucine (L) at position 110 (F110L, p.Phe110Leu).
Physico-chemical properties:

Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score:

0
Variant description:

Reduces cell membrane location; decreases G-protein coupled receptor activity.
Other resources:

Variant rs148928637 [ dbSNP | Ensembl ]

Sequence information Variant position:

110
Protein sequence length:

874
Location on the sequence:

NSSCISKPEQCGPEGVTFSF F WKTQGEQSRPIPSAYGGQVI
Residue conservation:

Human                         NSSCISKPEQCGPEGVTFSFFWKTQGEQSRPIPSAYGGQVI

Mouse                         KSSCISNPAQCGPEGVTFSFFWKTQGDQTRPAPYAYGGQVV

Bovine                        KTSCISNPAQCGPEGVSFSFFWKTQGEQSTSIPSAYGGQVI

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	26 – 874	Adhesion G-protein coupled receptor D1
Topological domain	26 – 570	Extracellular
Domain	79 – 276	Pentraxin (PTX)
Glycosylation	90 – 90	N-linked (GlcNAc...) asparagine
Alternative sequence	1 – 481	Missing. In isoform 3.
Alternative sequence	1 – 314	Missing. In isoform 2.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6QNK2: Variant p.Phe110Leu