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Curation:

Currentness:

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GDF5 S276A

(GDF5 Ser276Ala)

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Variant evidence
Computational		-

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

C @ chr20:34022387: 35.9% (3806/10588) in EVS
C @ chr20:33485800: 36.8% (42/114) in GET-Evidence
Frequency shown in summary reports: 35.9% (3806/10588)

Publications

Genomes

Deleted in this revision:

Other external references

dbSNP

rs224331
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the GDF5 gene
Brachydactyly Type A2
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly Type C
Chondrodysplasia, Grebe Type
Fibular Hypoplasia and Complex Brachydactyly
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GDF5

PolyPhen-2

Score: 0 (benign)

Web search results (9 hits -- see all)

Functional nonsynonymous single nucleotide polymorphisms from ...
Table 2. nsSNPs that are either predicted to be functional by PolyPhen or ... GDF5. rs224331. NP_000548.1. S276A. A and S. 2. A residue NI *Propeptide (potential) ...
physiolgenomics.physiology.org/cgi/content/full/29/2/109/T2
Sevtap Savas, Ian W. Taylor, Jeff L. Wrana and Hilmi Ozcelik
GDF5. rs224331. NP_000548.1. S276A. A and S. 2. A residue NI *Propeptide (potential) ... GDF5. rs224331. NP_000548.1. 2. S276A. A and S. A residue removes S276 in. RQPASLLDV. GDF8 ...
physiolgenomics.physiology.org/cgi/reprint/29/2/109.pdf
骨・関節疾患感受性遺伝子およびその用途 - 特開200642735 | j-tokkyo
【解決手段】GDF5遺伝子および/またはその周辺領域に存在する多型を検出することによる骨・関節疾患(例:変形性関節症など)に対する遺伝的感受性の診断方法、GDF5の発現もしくは活性 ... 周辺領域が、C20orf44遺伝子、C20orf44遺伝子とGDF5遺伝子とのフランキング領域、GDF5遺伝子とCEP2遺伝子とのフランキング領域およびCEP2 ...
www.j-tokkyo.com/2006/C12N/JP2006-042735.shtml
Type II- 95%
... (s) for variant Reference(s) for phosphorylation site ENPEP Q07075 R213Q 216 VAR_030359 ... cancer sample, somatic mutation 16959974 GDF5 P43026 S276A 270 VAR_026120 CAMK (0.624) ...
www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_95.txt
Adenoviruses RSS Page 19
... either wild-type p65 or the S276A mutant of p65, followed by DNA microarray analysis. ... with GDF5 protein, transfection of NP explants with GDF5 plasmid, and infection of NP ...
medworm.com/rss/search.php?...&r=Any&o=d&page=19

Other in silico analyses

NBLOSUM100 score = –1
GET-Evidence autoscore = 2

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C07 from PGP sample 74521372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B05 from PGP sample 86486261 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_F02 from PGP sample 40767107 view
Nov 29 2012 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D05 from PGP sample 1205491 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_H01 from PGP sample 94797469 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D03 from PGP sample 27486199 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_A04 from PGP sample 13272228 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_G02 from PGP sample 67180598 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added hu34D5B9 exome view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Jun 23 2011 Genome Importing Robot removed [NA18956] view
Jun 23 2011 Genome Importing Robot removed [NA18517] view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed D#kgao view
Jun 22 2011 Genome Importing Robot removed G/aq'o view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot removed !Ai view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Mar 29 2011 Genome Importing Robot added var-GS21767-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19834-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19703-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19701-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19648-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19129-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19025-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19017-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18956-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18517-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06994-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18501-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18504-1100-36-ASM view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added G/aq'o view
Feb 27 2010 Genome Importing Robot added D#kgao view
Feb 27 2010 Genome Importing Robot added !Ai view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA18517] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added variant view

GDF5 S276A - GET-Evidence