Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:

Currentness:

DBH R549C

(DBH Arg549Cys)

Variant evidence
Computational	5	PolyPhen: Probably damaging 0.992 SIFT: Affect protein function 0.00 GVGD: GV 0.00; GD 179.53; Class C65 Variant Effect Predictor (Ensembl ): SIFT=tolerated(0.12); PolyPhen=probably_damaging(0.887); Condel=deleterious(0.884) Mutation Tasting Prediction: Disease causing, P value: 0.602342; protein features (might be) affected (aa 38-617 TOPO_DOM Intragranular (Potential) gets lost)

Functional	-

Case/Control	-

Familial	-


Clinical importance
Severity	-

Treatability	-

Penetrance	-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

dbSNP

GeneTests

GeneTests records for the DBH gene
Dopamine Beta-Hydroxylase Deficiency
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DBH

PolyPhen-2

Web search results (1 hit -- see all)

Mar 5 2012 Genome Importing Robot added hu232307 build 36 substitution variants view
Jul 7 2011 Han Luu edited variant summary view
Jun 25 2011 Han Luu edited variant summary view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 7 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS19648-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added variant view