mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999975415389 (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)

chr6:54002231A>CN/A show variant in all transcripts IGV

HGNC symbol

MLIP

Ensembl transcript ID

ENST00000274897

Genbank transcript ID

NM_138569

UniProt peptide

Q5VWP3

alteration type

single base exchange

alteration region

intron

DNA changes

g.207452A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2754779

database	homozygous (C/C)	heterozygous	allele carriers
1000G	324	879	1203
ExAC	287	1947	2234

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.159	0.028
	-0.273	0.002
(flanking)	-0.883	0.002

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 increased	207443	wt: 0.85 / mu: 0.94	wt: ACTTGACCAAAAAGA mu: ACTTGACCAAAAAGC	TTGA\|ccaa
Donor marginally increased	207445	wt: 0.9134 / mu: 0.9168 (marginal change - not scored)	wt: TTGACCAAAAAGAAA mu: TTGACCAAAAAGCAA	GACC\|aaaa

distance from splice site

11623

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
355	355	CONFLICT	N -> T (in Ref. 3; AAH09010).	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

114 / 114

chromosome

strand

last intron/exon boundary

1485

theoretical NMD boundary in CDS

1321

length of CDS

1377

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)

207452

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

54002231

original gDNA sequence snippet

GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC

altered gDNA sequence snippet

GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ
GTDLKTSSHP EMLHGMAPQQ KHGQQYKTKS SYKAFAAIPT NTLLLEQKAL DEPAKTESVS
KDNTLEPPVE LYFPAQLRQQ TEELCATIDK VLQDSLSMHS SDSPSRSPKT LLGSDTVKTP
TTLPRAAGRE TKYANLSSPS STVSESQLTK PGVIRPVPVK SRILLKKEEE VYEPNPFSKY
LEDNSDLFSE QDVTVPPKPV SLHPLYQTKL YPPAKSLLHP QTLSHADCLA PGPFSHLSFS
LSDEQENSHT LLSHNACNKL SHPMVAIPEH EALDSKEQ*

mutated AA sequence

N/A

speed

0.81 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