Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998017 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:207795320A>GN/A show variant in all transcripts   IGV
HGNC symbol CR1
Ensembl transcript ID ENST00000367049
Genbank transcript ID NM_000651
UniProt peptide P17927
alteration type single base exchange
alteration region CDS
DNA changes c.7255A>G
cDNA.7255A>G
g.125829A>G
AA changes T2419A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2419
frameshift no
known variant Reference ID: rs2296160
databasehomozygous (G/G)heterozygousallele carriers
1000G17446592403
ExAC---
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3080.347
-5.4910
(flanking)0.2680
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost125826sequence motif lost- wt: ttag|GTAC
 mu: ttag.GTGC
Acc marginally increased125822wt: 0.9567 / mu: 0.9611 (marginal change - not scored)wt: TTTGTGACTTTTGTCTTCCTTTTAGGTACACATGATGCTCT
mu: TTTGTGACTTTTGTCTTCCTTTTAGGTGCACATGATGCTCT		 cctt|TTAG
Acc marginally increased125825wt: 0.9836 / mu: 0.9893 (marginal change - not scored)wt: GTGACTTTTGTCTTCCTTTTAGGTACACATGATGCTCTCAT
mu: GTGACTTTTGTCTTCCTTTTAGGTGCACATGATGCTCTCAT		 ttta|GGTA
Acc marginally increased125819wt: 0.8568 / mu: 0.8889 (marginal change - not scored)wt: TGTTTTGTGACTTTTGTCTTCCTTTTAGGTACACATGATGC
mu: TGTTTTGTGACTTTTGTCTTCCTTTTAGGTGCACATGATGC		 cttc|CTTT
Acc marginally increased125820wt: 0.9625 / mu: 0.9708 (marginal change - not scored)wt: GTTTTGTGACTTTTGTCTTCCTTTTAGGTACACATGATGCT
mu: GTTTTGTGACTTTTGTCTTCCTTTTAGGTGCACATGATGCT		 ttcc|TTTT
Acc marginally increased125821wt: 0.8742 / mu: 0.9156 (marginal change - not scored)wt: TTTTGTGACTTTTGTCTTCCTTTTAGGTACACATGATGCTC
mu: TTTTGTGACTTTTGTCTTCCTTTTAGGTGCACATGATGCTC		 tcct|TTTA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2419WDPPLAKCTSRTHDALIVGTLSGT
mutated  not conserved    2419WDPPLAKCTSRAHDALIVGTLSG
Ptroglodytes  not conserved  ENSPTRG00000001929  1969PLAKCTSRAHDALIVGTSSG
Mmulatta  no alignment  ENSMMUG00000013596  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000016481  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000056075  n/a
Dmelanogaster  no alignment  FBgn0032797  n/a
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017110  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7470 / 7470
position (AA) of stopcodon in wt / mu AA sequence 2490 / 2490
position of stopcodon in wt / mu cDNA 7470 / 7470
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 1
strand 1
last intron/exon boundary 7458
theoretical NMD boundary in CDS 7407
length of CDS 7470
coding sequence (CDS) position 7255
cDNA position
(for ins/del: last normal base / first normal base)		 7255
gDNA position
(for ins/del: last normal base / first normal base)		 125829
chromosomal position
(for ins/del: last normal base / first normal base)		 207795320
original gDNA sequence snippet CTTTTGTCTTCCTTTTAGGTACACATGATGCTCTCATAGTT
altered gDNA sequence snippet CTTTTGTCTTCCTTTTAGGTGCACATGATGCTCTCATAGTT
original cDNA sequence snippet TGGCCAAATGTACCTCTCGTACACATGATGCTCTCATAGTT
altered cDNA sequence snippet TGGCCAAATGTACCTCTCGTGCACATGATGCTCTCATAGTT
wildtype AA sequence MGASSPRSPE PVGPPAPGLP FCCGGSLLAV VVLLALPVAW GQCNAPEWLP FARPTNLTDE
FEFPIGTYLN YECRPGYSGR PFSIICLKNS VWTGAKDRCR RKSCRNPPDP VNGMVHVIKG
IQFGSQIKYS CTKGYRLIGS SSATCIISGD TVIWDNETPI CDRIPCGLPP TITNGDFIST
NRENFHYGSV VTYRCNPGSG GRKVFELVGE PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP
PNVENGILVS DNRSLFSLNE VVEFRCQPGF VMKGPRRVKC QALNKWEPEL PSCSRVCQPP
PDVLHAERTQ RDKDNFSPGQ EVFYSCEPGY DLRGAASMRC TPQGDWSPAA PTCEVKSCDD
FMGQLLNGRV LFPVNLQLGA KVDFVCDEGF QLKGSSASYC VLAGMESLWN SSVPVCEQIF
CPSPPVIPNG RHTGKPLEVF PFGKTVNYTC DPHPDRGTSF DLIGESTIRC TSDPQGNGVW
SSPAPRCGIL GHCQAPDHFL FAKLKTQTNA SDFPIGTSLK YECRPEYYGR PFSITCLDNL
VWSSPKDVCK RKSCKTPPDP VNGMVHVITD IQVGSRINYS CTTGHRLIGH SSAECILSGN
AAHWSTKPPI CQRIPCGLPP TIANGDFIST NRENFHYGSV VTYRCNPGSG GRKVFELVGE
PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP PNVENGILVS DNRSLFSLNE VVEFRCQPGF
VMKGPRRVKC QALNKWEPEL PSCSRVCQPP PDVLHAERTQ RDKDNFSPGQ EVFYSCEPGY
DLRGAASMRC TPQGDWSPAA PTCEVKSCDD FMGQLLNGRV LFPVNLQLGA KVDFVCDEGF
QLKGSSASYC VLAGMESLWN SSVPVCEQIF CPSPPVIPNG RHTGKPLEVF PFGKTVNYTC
DPHPDRGTSF DLIGESTIRC TSDPQGNGVW SSPAPRCGIL GHCQAPDHFL FAKLKTQTNA
SDFPIGTSLK YECRPEYYGR PFSITCLDNL VWSSPKDVCK RKSCKTPPDP VNGMVHVITD
IQVGSRINYS CTTGHRLIGH SSAECILSGN AAHWSTKPPI CQRIPCGLPP TIANGDFIST
NRENFHYGSV VTYRCNPGSG GRKVFELVGE PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP
PNVENGILVS DNRSLFSLNE VVEFRCQPGF VMKGPRRVKC QALNKWEPEL PSCSRVCQPP
PDVLHAERTQ RDKDNFSPGQ EVFYSCEPGY DLRGAASMRC TPQGDWSPAA PTCEVKSCDD
FMGQLLNGRV LFPVNLQLGA KVDFVCDEGF QLKGSSASYC VLAGMESLWN SSVPVCEQIF
CPSPPVIPNG RHTGKPLEVF PFGKAVNYTC DPHPDRGTSF DLIGESTIRC TSDPQGNGVW
SSPAPRCGIL GHCQAPDHFL FAKLKTQTNA SDFPIGTSLK YECRPEYYGR PFSITCLDNL
VWSSPKDVCK RKSCKTPPDP VNGMVHVITD IQVGSRINYS CTTGHRLIGH SSAECILSGN
TAHWSTKPPI CQRIPCGLPP TIANGDFIST NRENFHYGSV VTYRCNLGSR GRKVFELVGE
PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP PNVENGILVS DNRSLFSLNE VVEFRCQPGF
VMKGPRRVKC QALNKWEPEL PSCSRVCQPP PEILHGEHTP SHQDNFSPGQ EVFYSCEPGY
DLRGAASLHC TPQGDWSPEA PRCAVKSCDD FLGQLPHGRV LFPLNLQLGA KVSFVCDEGF
RLKGSSVSHC VLVGMRSLWN NSVPVCEHIF CPNPPAILNG RHTGTPSGDI PYGKEISYTC
DPHPDRGMTF NLIGESTIRC TSDPHGNGVW SSPAPRCELS VRAGHCKTPE QFPFASPTIP
INDFEFPVGT SLNYECRPGY FGKMFSISCL ENLVWSSVED NCRRKSCGPP PEPFNGMVHI
NTDTQFGSTV NYSCNEGFRL IGSPSTTCLV SGNNVTWDKK APICEIISCE PPPTISNGDF
YSNNRTSFHN GTVVTYQCHT GPDGEQLFEL VGERSIYCTS KDDQVGVWSS PPPRCISTNK
CTAPEVENAI RVPGNRSFFT LTEIIRFRCQ PGFVMVGSHT VQCQTNGRWG PKLPHCSRVC
QPPPEILHGE HTLSHQDNFS PGQEVFYSCE PSYDLRGAAS LHCTPQGDWS PEAPRCTVKS
CDDFLGQLPH GRVLLPLNLQ LGAKVSFVCD EGFRLKGRSA SHCVLAGMKA LWNSSVPVCE
QIFCPNPPAI LNGRHTGTPF GDIPYGKEIS YACDTHPDRG MTFNLIGESS IRCTSDPQGN
GVWSSPAPRC ELSVPAACPH PPKIQNGHYI GGHVSLYLPG MTISYICDPG YLLVGKGFIF
CTDQGIWSQL DHYCKEVNCS FPLFMNGISK ELEMKKVYHY GDYVTLKCED GYTLEGSPWS
QCQADDRWDP PLAKCTSRTH DALIVGTLSG TIFFILLIIF LSWIILKHRK GNNAHENPKE
VAIHLHSQGG SSVHPRTLQT NEENSRVLP*
mutated AA sequence MGASSPRSPE PVGPPAPGLP FCCGGSLLAV VVLLALPVAW GQCNAPEWLP FARPTNLTDE
FEFPIGTYLN YECRPGYSGR PFSIICLKNS VWTGAKDRCR RKSCRNPPDP VNGMVHVIKG
IQFGSQIKYS CTKGYRLIGS SSATCIISGD TVIWDNETPI CDRIPCGLPP TITNGDFIST
NRENFHYGSV VTYRCNPGSG GRKVFELVGE PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP
PNVENGILVS DNRSLFSLNE VVEFRCQPGF VMKGPRRVKC QALNKWEPEL PSCSRVCQPP
PDVLHAERTQ RDKDNFSPGQ EVFYSCEPGY DLRGAASMRC TPQGDWSPAA PTCEVKSCDD
FMGQLLNGRV LFPVNLQLGA KVDFVCDEGF QLKGSSASYC VLAGMESLWN SSVPVCEQIF
CPSPPVIPNG RHTGKPLEVF PFGKTVNYTC DPHPDRGTSF DLIGESTIRC TSDPQGNGVW
SSPAPRCGIL GHCQAPDHFL FAKLKTQTNA SDFPIGTSLK YECRPEYYGR PFSITCLDNL
VWSSPKDVCK RKSCKTPPDP VNGMVHVITD IQVGSRINYS CTTGHRLIGH SSAECILSGN
AAHWSTKPPI CQRIPCGLPP TIANGDFIST NRENFHYGSV VTYRCNPGSG GRKVFELVGE
PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP PNVENGILVS DNRSLFSLNE VVEFRCQPGF
VMKGPRRVKC QALNKWEPEL PSCSRVCQPP PDVLHAERTQ RDKDNFSPGQ EVFYSCEPGY
DLRGAASMRC TPQGDWSPAA PTCEVKSCDD FMGQLLNGRV LFPVNLQLGA KVDFVCDEGF
QLKGSSASYC VLAGMESLWN SSVPVCEQIF CPSPPVIPNG RHTGKPLEVF PFGKTVNYTC
DPHPDRGTSF DLIGESTIRC TSDPQGNGVW SSPAPRCGIL GHCQAPDHFL FAKLKTQTNA
SDFPIGTSLK YECRPEYYGR PFSITCLDNL VWSSPKDVCK RKSCKTPPDP VNGMVHVITD
IQVGSRINYS CTTGHRLIGH SSAECILSGN AAHWSTKPPI CQRIPCGLPP TIANGDFIST
NRENFHYGSV VTYRCNPGSG GRKVFELVGE PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP
PNVENGILVS DNRSLFSLNE VVEFRCQPGF VMKGPRRVKC QALNKWEPEL PSCSRVCQPP
PDVLHAERTQ RDKDNFSPGQ EVFYSCEPGY DLRGAASMRC TPQGDWSPAA PTCEVKSCDD
FMGQLLNGRV LFPVNLQLGA KVDFVCDEGF QLKGSSASYC VLAGMESLWN SSVPVCEQIF
CPSPPVIPNG RHTGKPLEVF PFGKAVNYTC DPHPDRGTSF DLIGESTIRC TSDPQGNGVW
SSPAPRCGIL GHCQAPDHFL FAKLKTQTNA SDFPIGTSLK YECRPEYYGR PFSITCLDNL
VWSSPKDVCK RKSCKTPPDP VNGMVHVITD IQVGSRINYS CTTGHRLIGH SSAECILSGN
TAHWSTKPPI CQRIPCGLPP TIANGDFIST NRENFHYGSV VTYRCNLGSR GRKVFELVGE
PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP PNVENGILVS DNRSLFSLNE VVEFRCQPGF
VMKGPRRVKC QALNKWEPEL PSCSRVCQPP PEILHGEHTP SHQDNFSPGQ EVFYSCEPGY
DLRGAASLHC TPQGDWSPEA PRCAVKSCDD FLGQLPHGRV LFPLNLQLGA KVSFVCDEGF
RLKGSSVSHC VLVGMRSLWN NSVPVCEHIF CPNPPAILNG RHTGTPSGDI PYGKEISYTC
DPHPDRGMTF NLIGESTIRC TSDPHGNGVW SSPAPRCELS VRAGHCKTPE QFPFASPTIP
INDFEFPVGT SLNYECRPGY FGKMFSISCL ENLVWSSVED NCRRKSCGPP PEPFNGMVHI
NTDTQFGSTV NYSCNEGFRL IGSPSTTCLV SGNNVTWDKK APICEIISCE PPPTISNGDF
YSNNRTSFHN GTVVTYQCHT GPDGEQLFEL VGERSIYCTS KDDQVGVWSS PPPRCISTNK
CTAPEVENAI RVPGNRSFFT LTEIIRFRCQ PGFVMVGSHT VQCQTNGRWG PKLPHCSRVC
QPPPEILHGE HTLSHQDNFS PGQEVFYSCE PSYDLRGAAS LHCTPQGDWS PEAPRCTVKS
CDDFLGQLPH GRVLLPLNLQ LGAKVSFVCD EGFRLKGRSA SHCVLAGMKA LWNSSVPVCE
QIFCPNPPAI LNGRHTGTPF GDIPYGKEIS YACDTHPDRG MTFNLIGESS IRCTSDPQGN
GVWSSPAPRC ELSVPAACPH PPKIQNGHYI GGHVSLYLPG MTISYICDPG YLLVGKGFIF
CTDQGIWSQL DHYCKEVNCS FPLFMNGISK ELEMKKVYHY GDYVTLKCED GYTLEGSPWS
QCQADDRWDP PLAKCTSRAH DALIVGTLSG TIFFILLIIF LSWIILKHRK GNNAHENPKE
VAIHLHSQGG SSVHPRTLQT NEENSRVLP*
speed 1.06 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