mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999865997429 (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)

chr15:94945719G>TN/A show variant in all transcripts IGV

HGNC symbol

MCTP2

Ensembl transcript ID

ENST00000357742

Genbank transcript ID

NM_018349

UniProt peptide

Q6DN12

alteration type

single base exchange

alteration region

intron

DNA changes

g.170953G>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs7178698

database	homozygous (T/T)	heterozygous	allele carriers
1000G	995	1117	2112
ExAC	5987	4292	10279

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.656	0
	-0.709	0
(flanking)	-0.009	0

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	170951	wt: 0.23 / mu: 0.61	wt: CAGCACCGCAAAGAG mu: CAGCACCTCAAAGAG	GCAC\|cgca
Donor increased	170955	wt: 0.61 / mu: 0.83	wt: ACCGCAAAGAGGAAC mu: ACCTCAAAGAGGAAC	CGCA\|aaga
Acc gained	170951	0.39	mu: CATTGCAATTTCATTCAGCACCTCAAAGAGGAACCACCCCT	gcac\|CTCA

distance from splice site

471

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
697	717	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
802	822	TRANSMEM	Helical; (Potential).	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

1 / 1

chromosome

strand

last intron/exon boundary

2569

theoretical NMD boundary in CDS

2518

length of CDS

2637

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)

170953

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

94945719

original gDNA sequence snippet

TTGCAATTTCATTCAGCACCGCAAAGAGGAACCACCCCTGT

altered gDNA sequence snippet

TTGCAATTTCATTCAGCACCTCAAAGAGGAACCACCCCTGT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MDLDKPSVWG SLKQRTRPLL INLSKKKVKK NPSKPPDLRA RHHLDRRLSL SVPDLLEAEA
LAPEGRPYSG PQSSYTSVPS SLSTAGIFPK SSSSSLKQSE EELDWSQEEA SHLHVVETDS
EEAYASPAER RRVSSNGIFD LQKTSLGGDA PEEPEKLCGS SDLNASMTSQ HFEEQSVPGE
ASDGLSNLPS PFAYLLTIHL KEGRNLVVRD RCGTSDPYVK FKLNGKTLYK SKVIYKNLNP
VWDEIVVLPI QSLDQKLRVK VYDRDLTTSD FMGSAFVILS DLELNRTTEH ILKLEDPNSL
EDDMGVIVLN LNLVVKQGDF KRHRWSNRKR LSASKSSLIR NLRLSESLKK NQLWNGIISI
TLLEGKNVSG GSMTEMFVQL KLGDQRYKSK TLCKSANPQW QEQFDFHYFS DRMGILDIEV
WGKDNKKHEE RLGTCKVDIS ALPLKQANCL ELPLDSCLGA LLMLVTLTPC AGVSVSDLCV
CPLADLSERK QITQRYCLQN SLKDVKDVGI LQVKVLKAAD LLAADFSGKS DPFCLLELGN
DRLQTHTVYK NLNPEWNKVF TFPIKDIHDV LEVTVFDEDG DKPPDFLGKV AIPLLSIRDG
QPNCYVLKNK DLEQAFKGVI YLEMDLIYNP VKASIRTFTP REKRFVEDSR KLSKKILSRD
VDRVKRITMA IWNTMQFLKS CFQWESTLRS TIAFAVFLIT VWNFELYMIP LALLLIFVYN
FIRPVKGKVS SIQDSQESTD IDDEEDEDDK ESEKKGLIER IYMVQDIVST VQNVLEEIAS
FGERIKNTFN WTVPFLSSLA CLILAAATII LYFIPLRYII LIWGINKFTK KLRNPYSIDN
NELLDFLSRV PSDVQKVQYA ELKLCSSHSP LRKKRSAL*

mutated AA sequence

N/A

speed

0.62 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