mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 3.39607054154132e-46 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1213373)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:77793207G>AN/A show variant in all transcripts IGV

HGNC symbol

GSTZ1

Ensembl transcript ID

ENST00000361389

Genbank transcript ID

N/A

UniProt peptide

O43708

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.453G>A
g.5981G>A

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs7975

database	homozygous (A/A)	heterozygous	allele carriers
1000G	260	1040	1300
ExAC	5124	22519	27643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.905	1
	4.572	1
(flanking)	3.783	0.994

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change before start ATG (at aa -25) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	5977	wt: 0.32 / mu: 0.93	wt: ATCGACTACGAGACG mu: ATCGACTACAAGACG	CGAC\|tacg

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
4	87	DOMAIN	GST N-terminal.	might get lost (downstream of altered splice site)
7	10	STRAND		might get lost (downstream of altered splice site)
14	19	REGION	Glutathione binding.	might get lost (downstream of altered splice site)
15	26	HELIX		might get lost (downstream of altered splice site)
32	32	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
32	35	STRAND		might get lost (downstream of altered splice site)
44	46	HELIX		might get lost (downstream of altered splice site)
45	45	BINDING	Glutathione.	might get lost (downstream of altered splice site)
48	53	HELIX		might get lost (downstream of altered splice site)
59	59	BINDING	Glutathione; via amide nitrogen and carbonyl oxygen.	might get lost (downstream of altered splice site)
61	64	STRAND		might get lost (downstream of altered splice site)
67	71	STRAND		might get lost (downstream of altered splice site)
71	72	REGION	Glutathione binding.	might get lost (downstream of altered splice site)
72	82	HELIX		might get lost (downstream of altered splice site)
92	212	DOMAIN	GST C-terminal.	might get lost (downstream of altered splice site)
93	109	HELIX		might get lost (downstream of altered splice site)
111	111	BINDING	Glutathione.	might get lost (downstream of altered splice site)
111	114	HELIX		might get lost (downstream of altered splice site)
115	117	REGION	Glutathione binding.	might get lost (downstream of altered splice site)
116	122	HELIX		might get lost (downstream of altered splice site)
124	149	HELIX		might get lost (downstream of altered splice site)
150	156	STRAND		might get lost (downstream of altered splice site)
161	175	HELIX		might get lost (downstream of altered splice site)
184	194	HELIX		might get lost (downstream of altered splice site)
197	199	HELIX		might get lost (downstream of altered splice site)
200	202	TURN		might get lost (downstream of altered splice site)
204	206	HELIX		might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

525 / 525

chromosome

strand

last intron/exon boundary

884

theoretical NMD boundary in CDS

309

length of CDS

486

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

453

gDNA position
(for ins/del: last normal base / first normal base)

5981

chromosomal position
(for ins/del: last normal base / first normal base)

77793207

original gDNA sequence snippet

CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC

altered gDNA sequence snippet

CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC

original cDNA sequence snippet

CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC

altered cDNA sequence snippet

CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC

wildtype AA sequence

MKQVPTLKID GITIHQSLAI IEYLEEMRPT PRLLPQDPKK RASVRMISDL IAGGIQPLQN
LSVLKQVGEE MQLTWAQNAI TCGFNALEQI LQSTAGIYCV GDEVTMADLC LVPQVANAER
FKVDLTPYPT ISSINKRLLV LEAFQVSHPC RQPDTPTELR A*

mutated AA sequence

N/A

speed

0.80 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project