mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 6.46292846512261e-18 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:53320274G>TN/A show variant in all transcripts IGV

HGNC symbol

ZYG11A

Ensembl transcript ID

ENST00000371532

Genbank transcript ID

N/A

UniProt peptide

Q6WRX3

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.601G>T
g.12092G>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs480299

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1014	923	1937
ExAC	4875	4912	9787

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.718	1
	0.144	0.997
(flanking)	3.005	1

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

splice sites

splice site change before start ATG (at aa -11) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc gained	12103	0.50	mu: AGTAGCCGATCGATTTCTCAGGGTGATGACTTGGCAAGGTA	tcag\|GGTG

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
204	227	REPEAT	LRR 1.	might get lost (downstream of altered splice site)
235	260	REPEAT	LRR 2.	might get lost (downstream of altered splice site)
490	513	REPEAT	LRR 3.	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

648 / 648

chromosome

strand

last intron/exon boundary

1726

theoretical NMD boundary in CDS

1028

length of CDS

1254

coding sequence (CDS) position

N/A

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

601

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

12092

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

53320274

original gDNA sequence snippet

TTCCCTCAGGAAGTAGCCGAGCGATTTCTCAGGGTGATGAC

altered gDNA sequence snippet

TTCCCTCAGGAAGTAGCCGATCGATTTCTCAGGGTGATGAC

original cDNA sequence snippet

TTCCCTCAGGAAGTAGCCGAGCGATTTCTCAGGGTGATGAC

altered cDNA sequence snippet

TTCCCTCAGGAAGTAGCCGATCGATTTCTCAGGGTGATGAC

wildtype AA sequence

MSQISEALSR YRNRSCFVKE ALHRLFTETF SMEVTMPAIL KLVAIGMRNH PLDLRVQFTA
SACALNLTRQ GLAKGMPVRL LSEVTCLLFK ALKNFPHYQQ LQKNCLLSLT NSRILVDVPF
DRFDAAKFVM RWLCKHENPK MQTMAVSVTS ILALQLSPEQ TAQLEELFMA VKELLAIVKQ
KTTENLDDVT FLFTLKALWN LTDGSPAACK HFIENQGLQI FIQVLETFSE SAIQSKVLGL
LNNIAEVREL SSKLVTEDVL KHINSLLCSR EMEVSYFAAG IIAHLTSDRQ LWISRDFQRR
TLLQDLHATI QNWPSSSCKM TALVTYRSFK TFFPLLGNFS QPEVQLWALW AMYHVCSKNP
SKYCKMLVEE EGLQLLCDIQ EHSEATPKAQ QIAASILDDF RMHFMNYQRP TLCQMPF*

mutated AA sequence

N/A

speed

0.10 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