mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.00353079658407157 (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) | chr6:656143C>AN/A show variant in all transcripts IGV | |||||||||||||||||||||
HGNC symbol | EXOC2 | |||||||||||||||||||||
Ensembl transcript ID | ENST00000230449 | |||||||||||||||||||||
Genbank transcript ID | NM_018303 | |||||||||||||||||||||
UniProt peptide | N/A | |||||||||||||||||||||
alteration type | single base exchange | |||||||||||||||||||||
alteration region | intron | |||||||||||||||||||||
DNA changes | g.36975G>T | |||||||||||||||||||||
AA changes | N/A | |||||||||||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||||||||||
frameshift | N/A | |||||||||||||||||||||
known variant | Reference ID: rs1211554
known disease mutation at this position, please check HGMD for details (HGMD ID CM062777) | |||||||||||||||||||||
regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation | |||||||||||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 18282 | |||||||||||||||||||||
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 | 137 / 137 | |||||||||||||||||||||
chromosome | 6 | |||||||||||||||||||||
strand | -1 | |||||||||||||||||||||
last intron/exon boundary | 2818 | |||||||||||||||||||||
theoretical NMD boundary in CDS | 2631 | |||||||||||||||||||||
length of CDS | 2775 | |||||||||||||||||||||
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) | 36975 | |||||||||||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 656143 | |||||||||||||||||||||
original gDNA sequence snippet | AGCTTGTTTTGGTTCAAGAAGATGTCTCTCTTCAGTATTTC | |||||||||||||||||||||
altered gDNA sequence snippet | AGCTTGTTTTGGTTCAAGAATATGTCTCTCTTCAGTATTTC | |||||||||||||||||||||
original cDNA sequence snippet | N/A | |||||||||||||||||||||
altered cDNA sequence snippet | N/A | |||||||||||||||||||||
wildtype AA sequence | MSRSRQPPLV TGISPNEGIP WTKVTIRGEN LGTGPTDLIG LTICGHNCLL TAEWMSASKI VCRVGQAKND KGDIIVTTKS GGRGTSTVSF KLLKPEKIGI LDQSAVWVDE MNYYDMRTDR NKGIPPLSLR PANPLGIEIE KSKFSQKDLE MLFHGMSADF TSENFSAAWY LIENHSNTSF EQLKMAVTNL KRQANKKSEG SLAYVKGGLS TFFEAQDALS AIHQKLEADG TEKVEGSMTQ KLENVLNRAS NTADTLFQEV LGRKDKADST RNALNVLQRF KFLFNLPLNI ERNIQKGDYD VVINDYEKAK SLFGKTEVQV FKKYYAEVET RIEALRELLL DKLLETPSTL HDQKRYIRYL SDLHASGDPA WQCIGAQHKW ILQLMHSCKE GYVKDLKGNP GLHSPMLDLD NDTRPSVLGH LSQTASLKRG SSFQSGRDDT WRYKTPHRVA FVEKLTKLVL SQLPNFWKLW ISYVNGSLFS ETAEKSGQIE RSKNVRQRQN DFKKMIQEVM HSLVKLTRGA LLPLSIRDGE AKQYGGWEVK CELSGQWLAH AIQTVRLTHE SLTALEIPND LLQTIQDLIL DLRVRCVMAT LQHTAEEIKR LAEKEDWIVD NEGLTSLPCQ FEQCIVCSLQ SLKGVLECKP GEASVFQQPK TQEEVCQLSI NIMQVFIYCL EQLSTKPDAD IDTTHLSVDV SSPDLFGSIH EDFSLTSEQR LLIVLSNCCY LERHTFLNIA EHFEKHNFQG IEKITQVSMA SLKELDQRLF ENYIELKADP IVGSLEPGIY AGYFDWKDCL PPTGVRNYLK EALVNIIAVH AEVFTISKEL VPRVLSKVIE AVSEELSRLM QCVSSFSKNG ALQARLEICA LRDTVAVYLT PESKSSFKQA LEALPQLSSG ADKKLLEELL NKFKSSMHLQ LTCFQAASST MMKT* | |||||||||||||||||||||
mutated AA sequence | N/A | |||||||||||||||||||||
speed | 0.79 s | |||||||||||||||||||||