Prediction |
polymorphism |
Model: simple_aae, prob: 0.860189581135203 (classification due to TGP/ExAC,
real probability is shown anyway)
(explain) |
Summary |
- amino acid sequence changed
- homozygous in TGP or ExAC
- known disease mutation at this position (HGMD CM054795)
- protein features (might be) affected
- splice site changes
|
hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr8:32453358G>AN/A
show variant in all transcripts IGV
|
HGNC symbol | NRG1 |
Ensembl transcript ID | ENST00000341377 |
Genbank transcript ID | N/A |
UniProt peptide | Q02297 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.113G>A cDNA.630G>A g.956457G>A |
AA changes | R38Q Score: 43 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 38 |
frameshift | no |
known variant | Reference ID: rs3924999
database | homozygous (A/A) | heterozygous | allele carriers |
1000G | 531 | 867 | 1398 |
ExAC | 10416 | 11935 | 22351 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
|
regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 0.895 | 0.982 | | 2.286 | 1 | (flanking) | 0.732 | 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 | Acc marginally increased | 956457 | wt: 0.9581 / mu: 0.9697 (marginal change - not scored) | wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC | cccg|ATTG | Acc marginally increased | 956448 | wt: 0.9609 / mu: 0.9706 (marginal change - not scored) | wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA | cctt|GCCT | Acc marginally increased | 956452 | wt: 0.8266 / mu: 0.8304 (marginal change - not scored) | wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA | gcct|CCCC | Acc increased | 956460 | wt: 0.61 / mu: 0.77 | wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG | gatt|GAAA | Donor increased | 956458 | wt: 0.72 / mu: 0.87 | wt: CCCCGATTGAAAGAG mu: CCCCAATTGAAAGAG | CCGA|ttga | Donor increased | 956459 | wt: 0.56 / mu: 0.86 | wt: CCCGATTGAAAGAGA mu: CCCAATTGAAAGAGA | CGAT|tgaa | Donor gained | 956453 | 0.43 | mu: TGCCTCCCCAATTGA | CCTC|ccca |
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distance from splice site | 13 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | |
protein features | start (aa) | end (aa) | feature | details | | 20 | 242 | TOPO_DOM | Extracellular (Potential). | lost | 37 | 128 | DOMAIN | Ig-like C2-type. | lost | 57 | 57 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 94 | 94 | CONFLICT | K -> A (in Ref. 2; AAA19953). | might get lost (downstream of altered splice site) | 107 | 107 | CONFLICT | S -> P (in Ref. 9; ABQ53539). | might get lost (downstream of altered splice site) | 112 | 112 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 120 | 120 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 126 | 126 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 164 | 164 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 165 | 177 | COMPBIAS | Ser/Thr-rich. | might get lost (downstream of altered splice site) | 178 | 181 | STRAND | | might get lost (downstream of altered splice site) | 178 | 222 | DOMAIN | EGF-like. | might get lost (downstream of altered splice site) | 182 | 182 | DISULFID | | might get lost (downstream of altered splice site) | 184 | 187 | HELIX | | might get lost (downstream of altered splice site) | 190 | 190 | DISULFID | | might get lost (downstream of altered splice site) | 190 | 193 | STRAND | | might get lost (downstream of altered splice site) | 195 | 205 | STRAND | | might get lost (downstream of altered splice site) | 196 | 196 | DISULFID | | might get lost (downstream of altered splice site) | 208 | 211 | STRAND | | might get lost (downstream of altered splice site) | 210 | 210 | DISULFID | | might get lost (downstream of altered splice site) | 212 | 212 | DISULFID | | might get lost (downstream of altered splice site) | 216 | 218 | STRAND | | might get lost (downstream of altered splice site) | 221 | 221 | DISULFID | | might get lost (downstream of altered splice site) | 233 | 235 | STRAND | | might get lost (downstream of altered splice site) | 243 | 265 | TRANSMEM | Helical; Note=Internal signal sequence; (Potential). | might get lost (downstream of altered splice site) | 261 | 261 | CONFLICT | V -> L (in Ref. 9; ABQ53540). | might get lost (downstream of altered splice site) | 266 | 640 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 414 | 414 | CONFLICT | S -> F (in Ref. 2; AAA19953). | might get lost (downstream of altered splice site) | 535 | 535 | CONFLICT | Q -> R (in Ref. 2; AAA19951). | might get lost (downstream of altered splice site) |
|
length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 744 / 744 |
position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 |
position of stopcodon in wt / mu cDNA | 1261 / 1261 |
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 | 518 / 518 |
chromosome | 8 |
strand | 1 |
last intron/exon boundary | 1845 |
theoretical NMD boundary in CDS | 1277 |
length of CDS | 744 |
coding sequence (CDS) position | 113 |
cDNA position (for ins/del: last normal base / first normal base) | 630 |
gDNA position (for ins/del: last normal base / first normal base) | 956457 |
chromosomal position (for ins/del: last normal base / first normal base) | 32453358 |
original gDNA sequence snippet | TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC |
altered gDNA sequence snippet | TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC |
original cDNA sequence snippet | GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC |
altered cDNA sequence snippet | GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC |
wildtype AA sequence | MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQESAQMSLL VIAAKTT* |
mutated AA sequence | MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQESAQMSLL VIAAKTT* |
speed | 1.38 s |
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