1MLW.A | TPH1

General Structure Information

PDB ID 1mlw
HGNC Gene Label(s) TPH1
Structure Name crystal structure of human tryptophan hydroxylase with bound 7,8-dihydro-l-biopterin cofactor and fe(iii)
Resolution 1.71Å
Reference AUTH L.WANG,H.ERLANDSEN,J.HAAVIK,P.M.KNAPPSKOG,AUTH 2 R.C.STEVENSTITL THREE-DIMENSIONAL STRUCTURE OF HUMAN TRYPTOPHANTITL 2 HYDROXYLASE AND ITS IMPLICATIONS FOR THETITL 3 BIOSYNTHESIS OF THE NEUROTRANSMITTERS SEROTONINTITL 4 AND MELATONINREF BIOCHEMISTRY V. 41 12569 2002REFN ISSN 0006-2960PMID 12379098DOI 10.1021/BI026561F

Variant Set Distributions

ExAC Variants

Number Of Residues 290
Number Of SNVs 64
Number Of Permutations 21034
Optimal Distance Threshold 16.0
K Statistic 0.189
p-value 0.322
COSMIC

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 64
Number Of COSMIC SNVs 4
Optimal Distance Threshold 13.0
K Statistic -0.117
p-value 0.87

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants