mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999876517729 (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)

chr1:207646898T>CN/A show variant in all transcripts IGV

HGNC symbol

CR2

Ensembl transcript ID

ENST00000458541

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.19324T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs4308977

database	homozygous (C/C)	heterozygous	allele carriers
1000G	268	914	1182
ExAC	5271	22225	27496

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.332	0.029
	0.034	0.01
(flanking)	0.412	0.009

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
Acc marginally increased	19316	wt: 0.4518 / mu: 0.5250 (marginal change - not scored)	wt: TAGGGAGTTTTTCTCTTCAGGCTGCCAGTCACCTCCTGGGC mu: TAGGGAGTTTTTCTCTTCAGGCTGCCAGCCACCTCCTGGGC	cagg\|CTGC
Acc marginally increased	19315	wt: 0.9728 / mu: 0.9783 (marginal change - not scored)	wt: GTAGGGAGTTTTTCTCTTCAGGCTGCCAGTCACCTCCTGGG mu: GTAGGGAGTTTTTCTCTTCAGGCTGCCAGCCACCTCCTGGG	tcag\|GCTG
Donor marginally increased	19322	wt: 0.9838 / mu: 0.9844 (marginal change - not scored)	wt: CTGCCAGTCACCTCC mu: CTGCCAGCCACCTCC	GCCA\|gtca

distance from splice site

248

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

55 / 55

chromosome

strand

last intron/exon boundary

3094

theoretical NMD boundary in CDS

2989

length of CDS

3021

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)

19324

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

207646898

original gDNA sequence snippet

TTTTCTCTTCAGGCTGCCAGTCACCTCCTGGGCTCCACCAT

altered gDNA sequence snippet

TTTTCTCTTCAGGCTGCCAGCCACCTCCTGGGCTCCACCAT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGAAGLLGVF LALVAPGVLG ISCGSPPPIL NGRISYYSTP IAVGTVIRYS CSGTFRLIGE
KSLLCITKDK VDGTWDKPAP KCEYFNKYSS CPEPIVPGGY KIRGSTPYRH GDSVTFACKT
NFSMNGNKSV WCQANNMWGP TRLPTCVSVF PLECPALPMI HNGHHTSENV GSIAPGLSVT
YSCESGYLLV GEKIINCLSS GKWSAVPPTC EEARCKSLGR FPNGKVKEPP ILRVGVTANF
FCDEGYRLQG PPSSRCVIAG QGVAWTKMPV CEEIFCPSPP PILNGRHIGN SLANVSYGSI
VTYTCDPDPE EGVNFILIGE STLRCTVDSQ KTGTWSGPAP RCELSTSAVQ CPHPQILRGR
MVSGQKDRYT YNDTVIFACM FGFTLKGSKQ IRCNAQGTWE PSAPVCEKEC QAPPNILNGQ
KEDRHMVRFD PGTSIKYSCN PGYVLVGEES IQCTSEGVWT PPVPQCKVAA CEATGRQLLT
KPQHQFVRPD VNSSCGEGNH LPTTPCYLQW GTHREFLRRF SIWNHGHLHM PGPERGVEFS
LIGESTIRCT SNDQERGTWS GPAPLCKLSL LAVQCSHVHI ANGYKISGKE APYFYNDTVT
FKCYSGFTLK GSSQIRCKAD NTWDPEIPVC EKETCQHVRQ SLQELPAGSR VELVNTSCQD
GYQLTGHAYQ MCQDAENGIW FKKIPLCKVI HCHPPPVIVN GKHTGMMAEN FLYGNEVSYE
CDQGFYLLGE KKLQCRSDSK GHGSWSGPSP QCLRSPPVTR CPNPEVKHGY KLNKTHSAYS
HNDIVYVDCN PGFIMNGSRV IRCHTDNTWV PGVPTCIKKA FIGCPPPPKT PNGNHTGGNI
ARFSPGMSIL YSCDQGYLLV GEALLLCTHE GTWSQPAPHC KEVNCSSPAD MDGIQKGLEP
RKMYQYGAVV TLECEDGYML EGSPQSQCQS DHQWNPPLAV CRSRSLAPVL CGIAAGLILL
TFLIVITLYV ISKHRARNYY TDTSQKEAFH LEAREVYSVD PYNPAS*

mutated AA sequence

N/A

speed

1.05 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