Prediction |
disease causing |
Model: simple_aae, prob: 0.999999999888003
(explain) |
Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM030454)
- protein features (might be) affected
- splice site changes
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr6:121768058G>AN/A
show variant in all transcripts IGV
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HGNC symbol | GJA1 |
Ensembl transcript ID | ENST00000282561 |
Genbank transcript ID | NM_000165 |
UniProt peptide | P17302 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.65G>A cDNA.222G>A g.11221G>A |
AA changes | G22E Score: 98 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 22 |
frameshift | no |
known variant | Reference ID: rs104893964
Allele 'A' was neither found in ExAC nor 1000G. known disease mutation at this position, please check HGMD for details (HGMD ID CM030454)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030454) known disease mutation at this position, please check HGMD for details (HGMD ID CM030454)
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regulatory features | DNase1, Open Chromatin, DNase1 Hypersensitive Site Gene Associated, Regulatory Feature, Gene associated regulatory feature H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 6.42 | 1 | | 6.42 | 1 | (flanking) | 1.573 | 1 | explain score(s) and/or inspect your position(s) in in UCSC Genome Browser |
splice sites | effect | gDNA position | score | wt detection sequence | exon-intron border | Donor marginally increased | 11214 | wt: 0.7303 / mu: 0.7919 (marginal change - not scored) | wt: CAACTGCTGGAGGGA mu: CAACTGCTGGAGAGA | ACTG|ctgg | Donor marginally increased | 11219 | wt: 0.9976 / mu: 0.9987 (marginal change - not scored) | wt: GCTGGAGGGAAGGTG mu: GCTGGAGAGAAGGTG | TGGA|ggga | Donor gained | 11224 | 0.39 | mu: AGAGAAGGTGTGGCT | AGAA|ggtg | Donor gained | 11216 | 0.96 | mu: ACTGCTGGAGAGAAG | TGCT|ggag |
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distance from splice site | 81 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 22 | L | D | K | V | Q | A | Y | S | T | A | G | G | K | V | W | L | S | V | L | F | I | F | R | I |
mutated | not conserved | | 22 | L | D | K | V | Q | A | Y | S | T | A | G | E | K | V | W | L | S | V | L | F | I | F | R |
Ptroglodytes | all identical | ENSPTRG00000018560 | 22 | L | D | K | V | Q | A | Y | S | T | A | G | G | K | V | W | L | S | V | L | F | I | F | R |
Mmulatta | all identical | ENSMMUG00000005225 | 22 | L | D | K | V | Q | A | Y | S | T | A | G | G | K | V | W | L | S | V | L | F | I | F | R |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000050953 | 22 | L | D | K | V | Q | A | Y | S | T | A | G | G | K | V | W | L | S | V | L | F | I | F | R |
Ggallus | all identical | ENSGALG00000014873 | 22 | L | D | K | V | Q | A | Y | S | T | A | G | G | K | V | W | L | S | V | L | F | I | F | R |
Trubripes | no homologue | | | |
Drerio | all identical | ENSDARG00000041799 | 22 | L | D | K | V | Q | A | Y | S | T | A | G | G | K | V | W | L | S | V | L | F | I | F | R |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | all identical | ENSXETG00000025411 | 22 | L | D | K | V | Q | A | Y | S | T | A | G | G | K | V | W | L | S | V | L | F | I | F | R |
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protein features | start (aa) | end (aa) | feature | details | | 14 | 36 | TRANSMEM | Helical; (Potential). | lost | 37 | 76 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | 54 | 54 | DISULFID | | might get lost (downstream of altered splice site) | 77 | 99 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 100 | 154 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 155 | 177 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 178 | 208 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | 187 | 187 | DISULFID | | might get lost (downstream of altered splice site) | 192 | 192 | DISULFID | | might get lost (downstream of altered splice site) | 198 | 198 | DISULFID | | might get lost (downstream of altered splice site) | 209 | 231 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 232 | 382 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 240 | 242 | HELIX | | might get lost (downstream of altered splice site) | 246 | 253 | HELIX | | might get lost (downstream of altered splice site) | 247 | 247 | MOD_RES | Phosphotyrosine. | might get lost (downstream of altered splice site) | 255 | 257 | HELIX | | might get lost (downstream of altered splice site) | 262 | 262 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | 306 | 306 | MOD_RES | Phosphoserine (By similarity). | might get lost (downstream of altered splice site) | 313 | 313 | MOD_RES | Phosphotyrosine. | might get lost (downstream of altered splice site) | 314 | 314 | MOD_RES | Phosphoserine (By similarity). | might get lost (downstream of altered splice site) | 325 | 325 | MOD_RES | Phosphoserine; by CK1. | might get lost (downstream of altered splice site) | 326 | 326 | MOD_RES | Phosphothreonine (By similarity). | might get lost (downstream of altered splice site) | 328 | 328 | MOD_RES | Phosphoserine; by CK1. | might get lost (downstream of altered splice site) | 330 | 330 | MOD_RES | Phosphoserine; by CK1. | might get lost (downstream of altered splice site) | 365 | 365 | MOD_RES | Phosphoserine (By similarity). | might get lost (downstream of altered splice site) | 368 | 368 | MOD_RES | Phosphoserine; by PKC/PRKCG (By similarity). | might get lost (downstream of altered splice site) | 369 | 369 | MOD_RES | Phosphoserine (By similarity). | might get lost (downstream of altered splice site) | 373 | 373 | MOD_RES | Phosphoserine (By similarity). | might get lost (downstream of altered splice site) |
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length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 1149 / 1149 |
position (AA) of stopcodon in wt / mu AA sequence | 383 / 383 |
position of stopcodon in wt / mu cDNA | 1306 / 1306 |
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 | 158 / 158 |
chromosome | 6 |
strand | 1 |
last intron/exon boundary | 142 |
theoretical NMD boundary in CDS | cannot be calculated, too little distance between start ATG and last intron/exon boundary |
length of CDS | 1149 |
coding sequence (CDS) position | 65 |
cDNA position (for ins/del: last normal base / first normal base) | 222 |
gDNA position (for ins/del: last normal base / first normal base) | 11221 |
chromosomal position (for ins/del: last normal base / first normal base) | 121768058 |
original gDNA sequence snippet | AGCCTACTCAACTGCTGGAGGGAAGGTGTGGCTGTCAGTAC |
altered gDNA sequence snippet | AGCCTACTCAACTGCTGGAGAGAAGGTGTGGCTGTCAGTAC |
original cDNA sequence snippet | AGCCTACTCAACTGCTGGAGGGAAGGTGTGGCTGTCAGTAC |
altered cDNA sequence snippet | AGCCTACTCAACTGCTGGAGAGAAGGTGTGGCTGTCAGTAC |
wildtype AA sequence | MGDWSALGKL LDKVQAYSTA GGKVWLSVLF IFRILLLGTA VESAWGDEQS AFRCNTQQPG CENVCYDKSF PISHVRFWVL QIIFVSVPTL LYLAHVFYVM RKEEKLNKKE EELKVAQTDG VNVDMHLKQI EIKKFKYGIE EHGKVKMRGG LLRTYIISIL FKSIFEVAFL LIQWYIYGFS LSAVYTCKRD PCPHQVDCFL SRPTEKTIFI IFMLVVSLVS LALNIIELFY VFFKGVKDRV KGKSDPYHAT SGALSPAKDC GSQKYAYFNG CSSPTAPLSP MSPPGYKLVT GDRNNSSCRN YNKQASEQNW ANYSAEQNRM GQAGSTISNS HAQPFDFPDD NQNSKKLAAG HELQPLAIVD QRPSSRASSR ASSRPRPDDL EI* |
mutated AA sequence | MGDWSALGKL LDKVQAYSTA GEKVWLSVLF IFRILLLGTA VESAWGDEQS AFRCNTQQPG CENVCYDKSF PISHVRFWVL QIIFVSVPTL LYLAHVFYVM RKEEKLNKKE EELKVAQTDG VNVDMHLKQI EIKKFKYGIE EHGKVKMRGG LLRTYIISIL FKSIFEVAFL LIQWYIYGFS LSAVYTCKRD PCPHQVDCFL SRPTEKTIFI IFMLVVSLVS LALNIIELFY VFFKGVKDRV KGKSDPYHAT SGALSPAKDC GSQKYAYFNG CSSPTAPLSP MSPPGYKLVT GDRNNSSCRN YNKQASEQNW ANYSAEQNRM GQAGSTISNS HAQPFDFPDD NQNSKKLAAG HELQPLAIVD QRPSSRASSR ASSRPRPDDL EI* |
speed | 1.25 s |
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