mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999752163778 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:194842785C>GN/A show variant in all transcripts IGV

HGNC symbol

XXYLT1

Ensembl transcript ID

ENST00000429994

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.149112G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs60922537

database	homozygous (G/G)	heterozygous	allele carriers
1000G	351	998	1349
ExAC	353	2156	2509

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.515	0
	-1.501	0
(flanking)	1.011	0.001

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	149103	wt: 0.3095 / mu: 0.3389 (marginal change - not scored)	wt: GAATCAGTGGGCACG mu: GAATCAGTGGGCACC	ATCA\|gtgg

distance from splice site

34393

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

84 / 84

chromosome

strand

-1

last intron/exon boundary

431

theoretical NMD boundary in CDS

297

length of CDS

744

coding sequence (CDS) position

N/A

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

N/A

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

149112

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

194842785

original gDNA sequence snippet

GACACAGAATCAGTGGGCACGTTGGTCTTGGACTTCCCAGC

altered gDNA sequence snippet

GACACAGAATCAGTGGGCACCTTGGTCTTGGACTTCCCAGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVRCVPSAVI VCFLRPPQPG RTVIFHDVAV LTDKLFPIVE AMQKHFSAGL GTYYSDSIFF
LSVAMHQIMP KEILQIIQLD LDLKFKTNIR ELFEEFDSFL PGAIIGIARE MQPVYRHTFW
QFRHENPQTR VGGPPPEGLP GFNSGVMLLN LEAMRQSPLY SRLLEPAQVQ QLADKYHFRG
HLGDQDFFTM IGMEHPKLFH VLDCTWNRQL CTWWRDHGYS DVFEAYFRCE GHVKIYHGNC
NTPIPED*

mutated AA sequence

N/A

speed

0.59 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