3HBW.A | FGF13

General Structure Information

PDB ID 3hbw
HGNC Gene Label(s) FGF13
Structure Name crystal structure of human fibroblast growth factor homologous factor 2a (fhf2a), also referred to as fibroblast growth factor 13a (fgf13a)
Resolution 1.9Å
Reference AUTH R.GOETZ,K.DOVER,F.LAEZZA,N.SHTRAIZENT,X.HUANG,AUTH 2 D.TCHETCHIK,A.V.ELISEENKOVA,C.F.XU,T.A.NEUBERT,AUTH 3 D.M.ORNITZ,M.GOLDFARB,M.MOHAMMADITITL CRYSTAL STRUCTURE OF A FIBROBLAST GROWTH FACTORTITL 2 HOMOLOGOUS FACTOR (FHF) DEFINES A CONSERVED SURFACETITL 3 ON FHFS FOR BINDING AND MODULATION OF VOLTAGE-GATEDTITL 4 SODIUM CHANNELS.REF J.BIOL.CHEM. V. 284 17883 2009REFN ISSN 0021-9258PMID 19406745DOI 10.1074/JBC.M109.001842

Variant Set Distributions

ExAC Variants

Number Of Residues 149
Number Of SNVs 8
Number Of Permutations 584
Optimal Distance Threshold 12.0
K Statistic 0.036
p-value 0.019
COSMIC

Number Of Residues 149
Number Of SNVs 4
Number Of Permutations 90
Optimal Distance Threshold 14.0
K Statistic 0.167
p-value 1.0

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 8
Number Of COSMIC SNVs 4
Optimal Distance Threshold 11.0
K Statistic 0.131
p-value 0.892

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants