mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999999876517729 (classification due to TGP/ExAC, real probability is shown anyway) (explain) | ||||||||||||||||||||
Summary |
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hyperlink | ||||||||||||||||||||
analysed issue | analysis result | |||||||||||||||||||||
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name of alteration | no title | |||||||||||||||||||||
alteration (phys. location) | chr1:207646898T>CN/A show variant in all transcripts IGV | |||||||||||||||||||||
HGNC symbol | CR2 | |||||||||||||||||||||
Ensembl transcript ID | ENST00000367058 | |||||||||||||||||||||
Genbank transcript ID | NM_001877 | |||||||||||||||||||||
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
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regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation | |||||||||||||||||||||
phyloP / phastCons |
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splice sites |
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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 | 190 / 190 | |||||||||||||||||||||
chromosome | 1 | |||||||||||||||||||||
strand | 1 | |||||||||||||||||||||
last intron/exon boundary | 3310 | |||||||||||||||||||||
theoretical NMD boundary in CDS | 3070 | |||||||||||||||||||||
length of CDS | 3102 | |||||||||||||||||||||
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 VNSSCGEGYK LSGSVYQECQ GTIPWFMEIR LCKEITCPPP PVIYNGAHTG SSLEDFPYGT TVTYTCNPGP ERGVEFSLIG ESTIRCTSND QERGTWSGPA PLCKLSLLAV QCSHVHIANG YKISGKEAPY FYNDTVTFKC YSGFTLKGSS QIRCKADNTW DPEIPVCEKE TCQHVRQSLQ ELPAGSRVEL VNTSCQDGYQ LTGHAYQMCQ DAENGIWFKK IPLCKVIHCH PPPVIVNGKH TGMMAENFLY GNEVSYECDQ GFYLLGEKKL QCRSDSKGHG SWSGPSPQCL RSPPVTRCPN PEVKHGYKLN KTHSAYSHND IVYVDCNPGF IMNGSRVIRC HTDNTWVPGV PTCIKKAFIG CPPPPKTPNG NHTGGNIARF SPGMSILYSC DQGYLLVGEA LLLCTHEGTW SQPAPHCKEV NCSSPADMDG IQKGLEPRKM YQYGAVVTLE CEDGYMLEGS PQSQCQSDHQ WNPPLAVCRS RSLAPVLCGI AAGLILLTFL IVITLYVISK HRARNYYTDT SQKEAFHLEA REVYSVDPYN PAS* | |||||||||||||||||||||
mutated AA sequence | N/A | |||||||||||||||||||||
speed | 0.90 s | |||||||||||||||||||||