mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999944 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

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

ENST00000367057

Genbank transcript ID

NM_001006658

UniProt peptide

P20023

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1987T>C
cDNA.2176T>C
g.19324T>C

AA changes

S663P Score: 74 explain score(s)

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

663

frameshift

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
Donor marginally increased	19322	wt: 0.9838 / mu: 0.9844 (marginal change - not scored)	wt: CTGCCAGTCACCTCC mu: CTGCCAGCCACCTCC	GCCA\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

663

mutated

not conserved

663

Ptroglodytes

not conserved

ENSPTRG00000041818

663

Mmulatta

not conserved

ENSMMUG00000013602

664

Fcatus

not conserved

ENSFCAG00000010589

665

Mmusculus

not conserved

ENSMUSG00000026616

664

Ggallus

not conserved

ENSGALG00000001164

265

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000056075

213

Dmelanogaster

not conserved

FBgn0032797

576

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000017110

protein features

start (aa)	end (aa)	feature	details
21	971	TOPO_DOM	Extracellular (Potential).	lost
660	716	DOMAIN	Sushi 11.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3279 / 3279

position (AA) of stopcodon in wt / mu AA sequence

1093 / 1093

position of stopcodon in wt / mu cDNA

3468 / 3468

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

190 / 190

chromosome

strand

last intron/exon boundary

3487

theoretical NMD boundary in CDS

3247

length of CDS

3279

coding sequence (CDS) position

1987

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

2176

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

TTTGTGAAAAAGGCTGCCAGTCACCTCCTGGGCTCCACCAT

altered cDNA sequence snippet

TTTGTGAAAAAGGCTGCCAGCCACCTCCTGGGCTCCACCAT

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 VNSSCGEGYK LSGSVYQECQ GTIPWFMEIR LCKEITCPPP PVIYNGAHTG
SSLEDFPYGT TVTYTCNPGP ERGVEFSLIG ESTIRCTSND QERGTWSGPA PLCKLSLLAV
QCSHVHIANG YKISGKEAPY FYNDTVTFKC YSGFTLKGSS QIRCKADNTW DPEIPVCEKG
CQSPPGLHHG RHTGGNTVFF VSGMTVDYTC DPGYLLVGNK SIHCMPSGNW SPSAPRCEET
CQHVRQSLQE LPAGSRVELV NTSCQDGYQL TGHAYQMCQD AENGIWFKKI PLCKVIHCHP
PPVIVNGKHT GMMAENFLYG NEVSYECDQG FYLLGEKKLQ CRSDSKGHGS WSGPSPQCLR
SPPVTRCPNP EVKHGYKLNK THSAYSHNDI VYVDCNPGFI MNGSRVIRCH TDNTWVPGVP
TCIKKAFIGC PPPPKTPNGN HTGGNIARFS PGMSILYSCD QGYLLVGEAL LLCTHEGTWS
QPAPHCKEVN CSSPADMDGI QKGLEPRKMY QYGAVVTLEC EDGYMLEGSP QSQCQSDHQW
NPPLAVCRSR SLAPVLCGIA AGLILLTFLI VITLYVISKH RARNYYTDTS QKEAFHLEAR
EVYSVDPYNP AS*

mutated 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 VNSSCGEGYK LSGSVYQECQ GTIPWFMEIR LCKEITCPPP PVIYNGAHTG
SSLEDFPYGT TVTYTCNPGP ERGVEFSLIG ESTIRCTSND QERGTWSGPA PLCKLSLLAV
QCSHVHIANG YKISGKEAPY FYNDTVTFKC YSGFTLKGSS QIRCKADNTW DPEIPVCEKG
CQPPPGLHHG RHTGGNTVFF VSGMTVDYTC DPGYLLVGNK SIHCMPSGNW SPSAPRCEET
CQHVRQSLQE LPAGSRVELV NTSCQDGYQL TGHAYQMCQD AENGIWFKKI PLCKVIHCHP
PPVIVNGKHT GMMAENFLYG NEVSYECDQG FYLLGEKKLQ CRSDSKGHGS WSGPSPQCLR
SPPVTRCPNP EVKHGYKLNK THSAYSHNDI VYVDCNPGFI MNGSRVIRCH TDNTWVPGVP
TCIKKAFIGC PPPPKTPNGN HTGGNIARFS PGMSILYSCD QGYLLVGEAL LLCTHEGTWS
QPAPHCKEVN CSSPADMDGI QKGLEPRKMY QYGAVVTLEC EDGYMLEGSP QSQCQSDHQW
NPPLAVCRSR SLAPVLCGIA AGLILLTFLI VITLYVISKH RARNYYTDTS QKEAFHLEAR
EVYSVDPYNP AS*

speed

1.24 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