Prediction |
polymorphism |
Model: simple_aae, prob: 0.958615278095295 (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 | ENST00000519301 |
| Genbank transcript ID | NM_001160001 |
| UniProt peptide | Q02297 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.50G>A
cDNA.59G>A
g.956457G>A |
| AA changes | R17Q Score: 43 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 17 |
| 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 |
|
| 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 | | | 2 | 19 | PROPEP | /FTId=PRO_0000019462. | lost | | 20 | 242 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 34 | 34 | SITE | Breakpoint for translocation to form gamma-heregulin. | might get lost (downstream of altered splice site) | | 37 | 128 | DOMAIN | Ig-like C2-type. | might get lost (downstream of altered splice site) | | 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 | 1773 / 1773 |
| position (AA) of stopcodon in wt / mu AA sequence | 591 / 591 |
| position of stopcodon in wt / mu cDNA | 1782 / 1782 |
| 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 | 10 / 10 |
| chromosome | 8 |
| strand | 1 |
| last intron/exon boundary | 1128 |
| theoretical NMD boundary in CDS | 1068 |
| length of CDS | 1773 |
| coding sequence (CDS) position | 50 |
cDNA position
(for ins/del: last normal base / first normal base) | 59 |
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 | CACCACAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC |
| altered cDNA sequence snippet | CACCACAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC |
| wildtype AA sequence | MGKGRAGRVG TTALPPRLKE MKSQESAAGS KLVLRCETSS EYSSLRFKWF KNGNELNRKN
KPQNIKIQKK PGKSELRINK ASLADSGEYM CKVISKLGND SASANITIVE SNATSTSTTG
TSHLVKCAEK EKTFCVNGGE CFMVKDLSNP SRYLCKCPNE FTGDRCQNYV MASFYKHLGI
EFMEAEELYQ KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM
NIANGPHHPN PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT
PSHSWSNGHT ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE
TPDSYRDSPH SERYVSAMTT PARMSPVDFH TPSSPKSPPS EMSPPVSSMT VSMPSMAVSP
FMEEERPLLL VTPPRLREKK FDHHPQQFSS FHHNPAHDSN SLPASPLRIV EDEEYETTQE
YEPAQEPVKK LANSRRAKRT KPNGHIANRL EVDSNTSSQS SNSESETEDE RVGEDTPFLG
IQNPLAASLE ATPAFRLADS RTNPAGRFST QEEIQARLSS VIANQDPIAV * |
| mutated AA sequence | MGKGRAGRVG TTALPPQLKE MKSQESAAGS KLVLRCETSS EYSSLRFKWF KNGNELNRKN
KPQNIKIQKK PGKSELRINK ASLADSGEYM CKVISKLGND SASANITIVE SNATSTSTTG
TSHLVKCAEK EKTFCVNGGE CFMVKDLSNP SRYLCKCPNE FTGDRCQNYV MASFYKHLGI
EFMEAEELYQ KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM
NIANGPHHPN PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT
PSHSWSNGHT ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE
TPDSYRDSPH SERYVSAMTT PARMSPVDFH TPSSPKSPPS EMSPPVSSMT VSMPSMAVSP
FMEEERPLLL VTPPRLREKK FDHHPQQFSS FHHNPAHDSN SLPASPLRIV EDEEYETTQE
YEPAQEPVKK LANSRRAKRT KPNGHIANRL EVDSNTSSQS SNSESETEDE RVGEDTPFLG
IQNPLAASLE ATPAFRLADS RTNPAGRFST QEEIQARLSS VIANQDPIAV * |
| speed | 1.11 s |
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