mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 5.18418779895271e-55 (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) | chr10:55955444T>GN/A show variant in all transcripts IGV | |||||||||||||
HGNC symbol | PCDH15 | |||||||||||||
Ensembl transcript ID | ENST00000395442 | |||||||||||||
Genbank transcript ID | N/A | |||||||||||||
UniProt peptide | N/A | |||||||||||||
alteration type | single base exchange | |||||||||||||
alteration region | intron | |||||||||||||
DNA changes | g.1432259A>C | |||||||||||||
AA changes | N/A | |||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
frameshift | N/A | |||||||||||||
known variant | Reference ID: rs4935502
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regulatory features | N/A | |||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 18252 | |||||||||||||
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 | 396 / 396 | |||||||||||||
chromosome | 10 | |||||||||||||
strand | -1 | |||||||||||||
last intron/exon boundary | 1494 | |||||||||||||
theoretical NMD boundary in CDS | 1048 | |||||||||||||
length of CDS | 1953 | |||||||||||||
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) | 1432259 | |||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 55955444 | |||||||||||||
original gDNA sequence snippet | TCTGGACAAGGACATAGAAGATGTAAGTTAAATACATATTT | |||||||||||||
altered gDNA sequence snippet | TCTGGACAAGGACATAGAAGCTGTAAGTTAAATACATATTT | |||||||||||||
original cDNA sequence snippet | N/A | |||||||||||||
altered cDNA sequence snippet | N/A | |||||||||||||
wildtype AA sequence | MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK FDLVIKEEPK KIKKPKVEIR EPSEEEEVVV TIEKPPAAEP TYTTWKRARI FPMIFKKVRG LADKRGIVDL EGEEWQRRLE EEDKDYLKLT LDQEEATEST VESEEESSSD YTEYSEEESE FSESETTEEE SESETPSEEE ESSTPESEES ESTESEGEKA RKNIVLARRR PMVEEVKEVK GRKEEPQEEQ KEPKMEEEEH SEEEESGPAP VEESTDPEAQ DIPEEGSAES ASVEGGVESE EESESGSSSS SSESQSGGPW GYQVPAYDRS KNANQKKSPG ANSEGYNTAL * | |||||||||||||
mutated AA sequence | N/A | |||||||||||||
speed | 0.87 s | |||||||||||||