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MT speed 0.49 s - this script 2.730765 s| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000337414(MANE Select) | ARHGAP6 | Deleterious | 0|200 | without_ | No | Yes | Single base exchange | N/A |
| ||||
| AMELX | Deleterious | 54|46 | simple_ | No | Yes | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:11298570C>T (GRCh38) | |||||||||
| Gene symbol | ARHGAP6 | |||||||||
| Gene constraints | no data | |||||||||
| Ensembl transcript ID | ENST00000337414.9 | |||||||||
| Genbank transcript ID | NM_013427 (exact from MANE) | |||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||
| Variant type | Single base exchange | |||||||||
| Gene region | intron | |||||||||
| DNA changes | c.589-43863G>A g.367351G>A | |||||||||
| AA changes | N/A | |||||||||
| Frameshift | No | |||||||||
| Length of protein | N/A | |||||||||
| Pathogenic variant (ClinVar) |
| |||||||||
| Variant DBs |
| |||||||||
| Protein conservation | N/A | |||||||||
| Protein features | N/A | |||||||||
| Phylogenetic conservation |
| |||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||
| Distance from splice site | N/A | |||||||||
| Kozak consensus sequence altered? | N/A | |||||||||
| poly(A) signal | N/A | |||||||||
| AA sequence altered | N/A | |||||||||
| Chromosome | 23 | |||||||||
| Strand | -1 | |||||||||
| Original gDNA sequence snippet | GGTGCAGCCATCCACCCATGGGCTCGTAACCATAGGAAGGG | |||||||||
| Altered gDNA sequence snippet | GGTGCAGCCATCCACCCATGAGCTCGTAACCATAGGAAGGG | |||||||||
| Original cDNA sequence snippet | N/A | |||||||||
| Altered cDNA sequence snippet | N/A | |||||||||
| Wildtype AA sequence | MSAQSLLHSV FSCSSPASSS AASAKGFSKR KLRQTRSLDP ALIGGCGSDE AGAEGSARGA TAGRLYSPSL PAESLGPRLA SSSRGPPPRA TRLPPPGPLC SSFSTPSTPQ EKSPSGSFHF DYEVPLGRGG LKKSMAWDLP SVLAGPASSR SASSILCSSG GGPNGIFASP RRWLQQRKFQ SPPDSRGHPY VVWKSEGDFT WNSMSGRSVR LRSVPIQSLS ELERARLQEV AFYQLQQDCD LSCQITIPKD GQKRKKSLRK KLDSLGKEKN KDKEFIPQAF GMPLSQVIAN DRAYKLKQDL QRDEQKDASD FVASLLPFGN KRQNKELSSS NSSLSSTSET PNESTSPNTP EPAPRARRRG AMSVDSITDL DDNQSRLLEA LQLSLPAEAQ SKKEKARDKK LSLNPIYRQV PRLVDSCCQH LEKHGLQTVG IFRVGSSKKR VRQLREEFDR GIDVSLEEEH SVHDVAALLK EFLRDMPDPL LTRELYTAFI NTLLLEPEEQ LGTLQLLIYL LPPCNCDTLH RLLQFLSIVA RHADDNISKD GQEVTGNKMT SLNLATIFGP NLLHKQKSSD KEFSVQSSAR AEESTAIIAV VQKMIENYEA LFMVPPDLQN EVLISLLETD PDVVDYLLRR KASQSSSPDM LQSEVSFSVG GRHSSTDSNK ASSGDISPYD NNSPVLSERS LLAMQEDAAP GGSEKLYRVP GQFMLVGHLS SSKSRESSPG PRLGKDLSEE PFDIWGTWHS TLKSGSKDPG MTGSSGDIFE SSSLRAGPCS LSQGNLSPNW PRWQGSPAEL DSDTQGARRT QAAAPATEGR AHPAVSRACS TPHVQVAGKA ERPTARSEQY LTLSGAHDLS ESELDVAGLQ SRATPQCQRP HGSGRDDKRP PPPYPGPGKP AAAAAWIQGP PEGVETPTDQ GGQAAEREQQ VTQKKLSSAN SLPAGEQDSP RLGDAGWLDW QRERWQIWEL LSTDNPDALP ETLV* | |||||||||
| Mutated AA sequence | ||||||||||
| 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 | |||||||||
| Position of start ATG in wt / mu cDNA | 1093 / 1093 | |||||||||
| Last intron/exon boundary | 3349 | |||||||||
| Theoretical NMD boundary in CDS | 2206 | |||||||||
| Length of CDS | 2925 | |||||||||
| Coding sequence (CDS) position | N/A | |||||||||
| cDNA position | N/A | |||||||||
| gDNA position | 367351 | |||||||||
| Chromosomal position | 11298570 | |||||||||
| Speed | 0.03 s | |||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:11298570C>T (GRCh38) | |||||||||||
| Gene symbol | AMELX | |||||||||||
| Gene constraints | no data | |||||||||||
| Ensembl transcript ID | ENST00000348912.4 | |||||||||||
| Genbank transcript ID | NM_182681 (by similarity) | |||||||||||
| UniProt / AlphaMissense peptide | AMELX_HUMAN | AlphaMissense: transcript, gene | |||||||||||
| Variant type | Single base exchange | |||||||||||
| Gene region | CDS | |||||||||||
| DNA changes | c.119C>T g.5158C>T | |||||||||||
| AA changes |
| |||||||||||
| Frameshift | No | |||||||||||
| Length of protein | Normal | |||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||
| Variant DBs |
| |||||||||||
| Protein conservation | ||||||||||||
| Protein features |
| |||||||||||
| Phylogenetic conservation |
| |||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||
| Distance from splice site | 23 | |||||||||||
| Kozak consensus sequence altered? | No | |||||||||||
| poly(A) signal | N/A | |||||||||||
| AA sequence altered | Yes | |||||||||||
| Chromosome | 23 | |||||||||||
| Strand | 1 | |||||||||||
| Original gDNA sequence snippet | CCCTTCCTATGGTTACGAGCCCATGGGTGGATGGCTGCACC | |||||||||||
| Altered gDNA sequence snippet | CCCTTCCTATGGTTACGAGCTCATGGGTGGATGGCTGCACC | |||||||||||
| Original cDNA sequence snippet | CCCTTCCTATGGTTACGAGCCCATGGGTGGATGGCTGCACC | |||||||||||
| Altered cDNA sequence snippet | CCCTTCCTATGGTTACGAGCTCATGGGTGGATGGCTGCACC | |||||||||||
| Wildtype AA sequence | MGTWILFACL LGAAFAMPVL TPLKWYQSIR PPYPSYGYEP MGGWLHHQII PVLSQQHPPT HTLQPHHHIP VVPAQQPVIP QQPMMPVPGQ HSMTPIQHHQ PNLPPPAQQP YQPQPVQPQP HQPMQPQPPV HPMQPLPPQP PLPPMFPMQP LPPMLPDLTL EAWPSTDKTK REEVD* | |||||||||||
| Mutated AA sequence | MGTWILFACL LGAAFAMPVL TPLKWYQSIR PPYPSYGYEL MGGWLHHQII PVLSQQHPPT HTLQPHHHIP VVPAQQPVIP QQPMMPVPGQ HSMTPIQHHQ PNLPPPAQQP YQPQPVQPQP HQPMQPQPPV HPMQPLPPQP PLPPMFPMQP LPPMLPDLTL EAWPSTDKTK REEVD* | |||||||||||
| Position of stopcodon in wt / mu CDS | 528 / 528 | |||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 176 / 176 | |||||||||||
| Position of stopcodon in wt / mu cDNA | 596 / 596 | |||||||||||
| Position of start ATG in wt / mu cDNA | 69 / 69 | |||||||||||
| Last intron/exon boundary | 590 | |||||||||||
| Theoretical NMD boundary in CDS | 471 | |||||||||||
| Length of CDS | 528 | |||||||||||
| Coding sequence (CDS) position | 119 | |||||||||||
| cDNA position | 187 | |||||||||||
| gDNA position | 5158 | |||||||||||
| Chromosomal position | 11298570 | |||||||||||
| Speed | 0.46 s | |||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project