UniProtKB/SwissProt variant VAR

TGF-beta receptor type-1
Gene: TGFBR1
Feedback?

Variant information Variant position:

487
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Tryptophan (W) at position 487 (R487W, p.Arg487Trp).
Physico-chemical properties:

Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score:

-3
Variant description:

In LDS1.
Other resources:

Variant rs111426349 [ dbSNP | Ensembl ]

Sequence information Variant position:

487
Protein sequence length:

503
Location on the sequence:

MAKIMRECWYANGAARLTAL R IKKTLSQLSQQEGIKM
Residue conservation:

Human                         MAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM

Mouse                         MAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM

Rat                           MAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM

Pig                           MAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM

Bovine                        MAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	34 – 503	TGF-beta receptor type-1
Topological domain	148 – 503	Cytoplasmic
Domain	205 – 495	Protein kinase
Helix	485 – 497

Literature citations
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys B.L.; Schwarze U.; Holm T.; Callewaert B.L.; Thomas G.H.; Pannu H.; De Backer J.F.; Oswald G.L.; Symoens S.; Manouvrier S.; Roberts A.E.; Faravelli F.; Greco M.A.; Pyeritz R.E.; Milewicz D.M.; Coucke P.J.; Cameron D.E.; Braverman A.C.; Byers P.H.; De Paepe A.M.; Dietz H.C.;
N. Engl. J. Med. 355:788-798(2006)
Cited for: VARIANTS LDS1 GLU-232; TRP-487; PRO-487 AND GLN-487;

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 P36897: Variant p.Arg487Trp