Prediction |
polymorphism |
Model: simple_aae, prob: 5.24262818848668e-08 (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 CM900081)
- protein features (might be) affected
- splice site changes
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr22:42526694G>AN/A
show variant in all transcripts IGV
|
| HGNC symbol | CYP2D6 |
| Ensembl transcript ID | ENST00000360608 |
| Genbank transcript ID | NM_000106 |
| UniProt peptide | P10635 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.100C>T
cDNA.215C>T
g.215C>T |
| AA changes | P34S Score: 74 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 34 |
| frameshift | no |
| known variant | Reference ID: rs1065852
| database | homozygous (A/A) | heterozygous | allele carriers |
| 1000G | 255 | 682 | 937 |
| ExAC | 3570 | 16502 | 20072 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM900081)
|
| regulatory features | Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | 4.426 | 0.997 | | 4.426 | 1 | | (flanking) | 1.745 | 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 increased | 221 | wt: 0.21 / mu: 0.37 | wt: GGGCTGCACGCTACCCACCAGGCCCCCTGCCACTGCCCGGG
mu: GGGCTGCACGCTACTCACCAGGCCCCCTGCCACTGCCCGGG | ccag|GCCC | | Donor marginally increased | 209 | wt: 0.6110 / mu: 0.6501 (marginal change - not scored) | wt: CTGCACGCTACCCAC
mu: CTGCACGCTACTCAC | GCAC|gcta |
|
| distance from splice site | 81 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 34 | M | H | R | R | Q | R | W | A | A | R | Y | P | P | G | P | L | P | L | P | G | L | G | N | L |
| mutated | not conserved | | 34 | M | H | R | R | Q | R | W | A | A | R | Y | S | P | G | P | L | P | L | P | G | L | G | N |
| Ptroglodytes | all identical | ENSPTRG00000042031 | 34 | M | H | R | R | Q | R | W | A | A | R | Y | P | P | G | P | L | P | L | P | G | L | G | N |
| Mmulatta | all identical | ENSMMUG00000017962 | 71 | M | H | R | R | Q | R | W | A | A | R | Y | P | P | G | P | L | P | L | P | G | L | G | N |
| Fcatus | no homologue | | | |
| Mmusculus | all identical | ENSMUSG00000061740 | 37 | M | H | W | R | Q | R | W | T | A | H | Y | P | P | G | P | M | P | W | P | V | L | G | N |
| Ggallus | all identical | ENSGALG00000011894 | 42 | M | K | R | R | K | K | W | S | - | R | Y | P | P | G | P | M | P | L | P | F | V | G | T |
| Trubripes | all identical | ENSTRUG00000017693 | 44 | L | - | - | R | N | R | R | S | G | S | F | P | P | G | P | T | A | I | P | I | I | G | N |
| Drerio | all identical | ENSDARG00000042980 | 40 | I | - | - | R | N | K | S | P | K | N | F | P | P | G | P | W | S | L | P | F | I | G | H |
| Dmelanogaster | no homologue | | | |
| Celegans | no homologue | | | |
| Xtropicalis | all identical | ENSXETG00000017472 | 44 | V | K | R | R | K | T | W | R | - | N | F | P | P | G | P | P | C | I | P | F | V | G | N |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 41 | 43 | TURN | | might get lost (downstream of altered splice site) | | 46 | 48 | HELIX | | might get lost (downstream of altered splice site) | | 54 | 65 | HELIX | | might get lost (downstream of altered splice site) | | 67 | 73 | STRAND | | might get lost (downstream of altered splice site) | | 76 | 81 | STRAND | | might get lost (downstream of altered splice site) | | 83 | 91 | HELIX | | might get lost (downstream of altered splice site) | | 92 | 94 | TURN | | might get lost (downstream of altered splice site) | | 95 | 97 | HELIX | | might get lost (downstream of altered splice site) | | 105 | 110 | HELIX | | might get lost (downstream of altered splice site) | | 118 | 121 | TURN | | might get lost (downstream of altered splice site) | | 126 | 141 | HELIX | | might get lost (downstream of altered splice site) | | 143 | 145 | TURN | | might get lost (downstream of altered splice site) | | 148 | 165 | HELIX | | might get lost (downstream of altered splice site) | | 166 | 169 | TURN | | might get lost (downstream of altered splice site) | | 175 | 191 | HELIX | | might get lost (downstream of altered splice site) | | 200 | 214 | HELIX | | might get lost (downstream of altered splice site) | | 219 | 226 | HELIX | | might get lost (downstream of altered splice site) | | 228 | 232 | HELIX | | might get lost (downstream of altered splice site) | | 234 | 240 | HELIX | | might get lost (downstream of altered splice site) | | 242 | 261 | HELIX | | might get lost (downstream of altered splice site) | | 271 | 281 | HELIX | | might get lost (downstream of altered splice site) | | 282 | 284 | TURN | | might get lost (downstream of altered splice site) | | 292 | 323 | HELIX | | might get lost (downstream of altered splice site) | | 301 | 301 | BINDING | Substrate (Probable). | might get lost (downstream of altered splice site) | | 325 | 338 | HELIX | | might get lost (downstream of altered splice site) | | 341 | 343 | STRAND | | might get lost (downstream of altered splice site) | | 347 | 350 | HELIX | | might get lost (downstream of altered splice site) | | 354 | 367 | HELIX | | might get lost (downstream of altered splice site) | | 370 | 372 | STRAND | | might get lost (downstream of altered splice site) | | 374 | 374 | CONFLICT | V -> M (in Ref. 1; AAA52153 and 2; CAA30807). | might get lost (downstream of altered splice site) | | 382 | 384 | STRAND | | might get lost (downstream of altered splice site) | | 387 | 389 | STRAND | | might get lost (downstream of altered splice site) | | 394 | 397 | STRAND | | might get lost (downstream of altered splice site) | | 399 | 403 | HELIX | | might get lost (downstream of altered splice site) | | 406 | 408 | TURN | | might get lost (downstream of altered splice site) | | 409 | 411 | STRAND | | might get lost (downstream of altered splice site) | | 417 | 420 | HELIX | | might get lost (downstream of altered splice site) | | 443 | 443 | METAL | Iron (heme axial ligand). | might get lost (downstream of altered splice site) | | 446 | 463 | HELIX | | might get lost (downstream of altered splice site) | | 464 | 467 | STRAND | | might get lost (downstream of altered splice site) | | 479 | 487 | STRAND | | might get lost (downstream of altered splice site) | | 492 | 496 | STRAND | | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 1494 / 1494 |
| position (AA) of stopcodon in wt / mu AA sequence | 498 / 498 |
| position of stopcodon in wt / mu cDNA | 1609 / 1609 |
| 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 | 116 / 116 |
| chromosome | 22 |
| strand | -1 |
| last intron/exon boundary | 1431 |
| theoretical NMD boundary in CDS | 1265 |
| length of CDS | 1494 |
| coding sequence (CDS) position | 100 |
cDNA position
(for ins/del: last normal base / first normal base) | 215 |
gDNA position
(for ins/del: last normal base / first normal base) | 215 |
chromosomal position
(for ins/del: last normal base / first normal base) | 42526694 |
| original gDNA sequence snippet | AACGCTGGGCTGCACGCTACCCACCAGGCCCCCTGCCACTG |
| altered gDNA sequence snippet | AACGCTGGGCTGCACGCTACTCACCAGGCCCCCTGCCACTG |
| original cDNA sequence snippet | AACGCTGGGCTGCACGCTACCCACCAGGCCCCCTGCCACTG |
| altered cDNA sequence snippet | AACGCTGGGCTGCACGCTACTCACCAGGCCCCCTGCCACTG |
| wildtype AA sequence | MGLEALVPLA VIVAIFLLLV DLMHRRQRWA ARYPPGPLPL PGLGNLLHVD FQNTPYCFDQ
LRRRFGDVFS LQLAWTPVVV LNGLAAVREA LVTHGEDTAD RPPVPITQIL GFGPRSQGVF
LARYGPAWRE QRRFSVSTLR NLGLGKKSLE QWVTEEAACL CAAFANHSGR PFRPNGLLDK
AVSNVIASLT CGRRFEYDDP RFLRLLDLAQ EGLKEESGFL REVLNAVPVL LHIPALAGKV
LRFQKAFLTQ LDELLTEHRM TWDPAQPPRD LTEAFLAEME KAKGNPESSF NDENLCIVVA
DLFSAGMVTT STTLAWGLLL MILHPDVQRR VQQEIDDVIG QVRRPEMGDQ AHMPYTTAVI
HEVQRFGDIV PLGVTHMTSR DIEVQGFRIP KGTTLITNLS SVLKDEAVWE KPFRFHPEHF
LDAQGHFVKP EAFLPFSAGR RACLGEPLAR MELFLFFTSL LQHFSFSVPT GQPRPSHHGV
FAFLVTPSPY ELCAVPR* |
| mutated AA sequence | MGLEALVPLA VIVAIFLLLV DLMHRRQRWA ARYSPGPLPL PGLGNLLHVD FQNTPYCFDQ
LRRRFGDVFS LQLAWTPVVV LNGLAAVREA LVTHGEDTAD RPPVPITQIL GFGPRSQGVF
LARYGPAWRE QRRFSVSTLR NLGLGKKSLE QWVTEEAACL CAAFANHSGR PFRPNGLLDK
AVSNVIASLT CGRRFEYDDP RFLRLLDLAQ EGLKEESGFL REVLNAVPVL LHIPALAGKV
LRFQKAFLTQ LDELLTEHRM TWDPAQPPRD LTEAFLAEME KAKGNPESSF NDENLCIVVA
DLFSAGMVTT STTLAWGLLL MILHPDVQRR VQQEIDDVIG QVRRPEMGDQ AHMPYTTAVI
HEVQRFGDIV PLGVTHMTSR DIEVQGFRIP KGTTLITNLS SVLKDEAVWE KPFRFHPEHF
LDAQGHFVKP EAFLPFSAGR RACLGEPLAR MELFLFFTSL LQHFSFSVPT GQPRPSHHGV
FAFLVTPSPY ELCAVPR* |
| speed | 0.95 s |
|
|
Prediction |
polymorphism |
Model: simple_aae, prob: 5.24262818848669e-08 (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 CM900081)
- protein features (might be) affected
- splice site changes
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr22:42526694G>AN/A
show variant in all transcripts IGV
|
| HGNC symbol | CYP2D6 |
| Ensembl transcript ID | ENST00000359033 |
| Genbank transcript ID | NM_001025161 |
| UniProt peptide | P10635 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.100C>T
cDNA.174C>T
g.215C>T |
| AA changes | P34S Score: 74 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 34 |
| frameshift | no |
| known variant | Reference ID: rs1065852
| database | homozygous (A/A) | heterozygous | allele carriers |
| 1000G | 255 | 682 | 937 |
| ExAC | 3570 | 16502 | 20072 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM900081)
|
| regulatory features | Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | 4.426 | 0.997 | | 4.426 | 1 | | (flanking) | 1.745 | 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 increased | 221 | wt: 0.21 / mu: 0.37 | wt: GGGCTGCACGCTACCCACCAGGCCCCCTGCCACTGCCCGGG
mu: GGGCTGCACGCTACTCACCAGGCCCCCTGCCACTGCCCGGG | ccag|GCCC | | Donor marginally increased | 209 | wt: 0.6110 / mu: 0.6501 (marginal change - not scored) | wt: CTGCACGCTACCCAC
mu: CTGCACGCTACTCAC | GCAC|gcta |
|
| distance from splice site | 81 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 34 | M | H | R | R | Q | R | W | A | A | R | Y | P | P | G | P | L | P | L | P | G | L | G | N | L |
| mutated | not conserved | | 34 | M | H | R | R | Q | R | W | A | A | R | Y | S | P | G | P | L | P | L | P | G | L | G | N |
| Ptroglodytes | all identical | ENSPTRG00000042031 | 34 | M | H | R | R | Q | R | W | A | A | R | Y | P | P | G | P | L | P | L | P | G | L | G | N |
| Mmulatta | all identical | ENSMMUG00000017962 | 71 | M | H | R | R | Q | R | W | A | A | R | Y | P | P | G | P | L | P | L | P | G | L | G | N |
| Fcatus | no homologue | | | |
| Mmusculus | all identical | ENSMUSG00000061740 | 37 | M | H | W | R | Q | R | W | T | A | H | Y | P | P | G | P | M | P | W | P | V | L | G | N |
| Ggallus | all identical | ENSGALG00000011894 | 42 | M | K | R | R | K | K | W | S | - | R | Y | P | P | G | P | M | P | L | P | F | V | G | T |
| Trubripes | all identical | ENSTRUG00000017693 | 44 | L | - | - | R | N | R | R | S | G | S | F | P | P | G | P | T | A | I | P | I | I | G | N |
| Drerio | all identical | ENSDARG00000042980 | 40 | I | - | - | R | N | K | S | P | K | N | F | P | P | G | P | W | S | L | P | F | I | G | H |
| Dmelanogaster | no homologue | | | |
| Celegans | no homologue | | | |
| Xtropicalis | all identical | ENSXETG00000017472 | 44 | V | K | R | R | K | T | W | R | - | N | F | P | P | G | P | P | C | I | P | F | V | G | N |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 41 | 43 | TURN | | might get lost (downstream of altered splice site) | | 46 | 48 | HELIX | | might get lost (downstream of altered splice site) | | 54 | 65 | HELIX | | might get lost (downstream of altered splice site) | | 67 | 73 | STRAND | | might get lost (downstream of altered splice site) | | 76 | 81 | STRAND | | might get lost (downstream of altered splice site) | | 83 | 91 | HELIX | | might get lost (downstream of altered splice site) | | 92 | 94 | TURN | | might get lost (downstream of altered splice site) | | 95 | 97 | HELIX | | might get lost (downstream of altered splice site) | | 105 | 110 | HELIX | | might get lost (downstream of altered splice site) | | 118 | 121 | TURN | | might get lost (downstream of altered splice site) | | 126 | 141 | HELIX | | might get lost (downstream of altered splice site) | | 143 | 145 | TURN | | might get lost (downstream of altered splice site) | | 148 | 165 | HELIX | | might get lost (downstream of altered splice site) | | 166 | 169 | TURN | | might get lost (downstream of altered splice site) | | 175 | 191 | HELIX | | might get lost (downstream of altered splice site) | | 200 | 214 | HELIX | | might get lost (downstream of altered splice site) | | 219 | 226 | HELIX | | might get lost (downstream of altered splice site) | | 228 | 232 | HELIX | | might get lost (downstream of altered splice site) | | 234 | 240 | HELIX | | might get lost (downstream of altered splice site) | | 242 | 261 | HELIX | | might get lost (downstream of altered splice site) | | 271 | 281 | HELIX | | might get lost (downstream of altered splice site) | | 282 | 284 | TURN | | might get lost (downstream of altered splice site) | | 292 | 323 | HELIX | | might get lost (downstream of altered splice site) | | 301 | 301 | BINDING | Substrate (Probable). | might get lost (downstream of altered splice site) | | 325 | 338 | HELIX | | might get lost (downstream of altered splice site) | | 341 | 343 | STRAND | | might get lost (downstream of altered splice site) | | 347 | 350 | HELIX | | might get lost (downstream of altered splice site) | | 354 | 367 | HELIX | | might get lost (downstream of altered splice site) | | 370 | 372 | STRAND | | might get lost (downstream of altered splice site) | | 374 | 374 | CONFLICT | V -> M (in Ref. 1; AAA52153 and 2; CAA30807). | might get lost (downstream of altered splice site) | | 382 | 384 | STRAND | | might get lost (downstream of altered splice site) | | 387 | 389 | STRAND | | might get lost (downstream of altered splice site) | | 394 | 397 | STRAND | | might get lost (downstream of altered splice site) | | 399 | 403 | HELIX | | might get lost (downstream of altered splice site) | | 406 | 408 | TURN | | might get lost (downstream of altered splice site) | | 409 | 411 | STRAND | | might get lost (downstream of altered splice site) | | 417 | 420 | HELIX | | might get lost (downstream of altered splice site) | | 443 | 443 | METAL | Iron (heme axial ligand). | might get lost (downstream of altered splice site) | | 446 | 463 | HELIX | | might get lost (downstream of altered splice site) | | 464 | 467 | STRAND | | might get lost (downstream of altered splice site) | | 479 | 487 | STRAND | | might get lost (downstream of altered splice site) | | 492 | 496 | STRAND | | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 1341 / 1341 |
| position (AA) of stopcodon in wt / mu AA sequence | 447 / 447 |
| position of stopcodon in wt / mu cDNA | 1415 / 1415 |
| 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 | 75 / 75 |
| chromosome | 22 |
| strand | -1 |
| last intron/exon boundary | 1237 |
| theoretical NMD boundary in CDS | 1112 |
| length of CDS | 1341 |
| coding sequence (CDS) position | 100 |
cDNA position
(for ins/del: last normal base / first normal base) | 174 |
gDNA position
(for ins/del: last normal base / first normal base) | 215 |
chromosomal position
(for ins/del: last normal base / first normal base) | 42526694 |
| original gDNA sequence snippet | AACGCTGGGCTGCACGCTACCCACCAGGCCCCCTGCCACTG |
| altered gDNA sequence snippet | AACGCTGGGCTGCACGCTACTCACCAGGCCCCCTGCCACTG |
| original cDNA sequence snippet | AACGCTGGGCTGCACGCTACCCACCAGGCCCCCTGCCACTG |
| altered cDNA sequence snippet | AACGCTGGGCTGCACGCTACTCACCAGGCCCCCTGCCACTG |
| wildtype AA sequence | MGLEALVPLA VIVAIFLLLV DLMHRRQRWA ARYPPGPLPL PGLGNLLHVD FQNTPYCFDQ
LRRRFGDVFS LQLAWTPVVV LNGLAAVREA LVTHGEDTAD RPPVPITQIL GFGPRSQGRP
FRPNGLLDKA VSNVIASLTC GRRFEYDDPR FLRLLDLAQE GLKEESGFLR EVLNAVPVLL
HIPALAGKVL RFQKAFLTQL DELLTEHRMT WDPAQPPRDL TEAFLAEMEK AKGNPESSFN
DENLCIVVAD LFSAGMVTTS TTLAWGLLLM ILHPDVQRRV QQEIDDVIGQ VRRPEMGDQA
HMPYTTAVIH EVQRFGDIVP LGVTHMTSRD IEVQGFRIPK GTTLITNLSS VLKDEAVWEK
PFRFHPEHFL DAQGHFVKPE AFLPFSAGRR ACLGEPLARM ELFLFFTSLL QHFSFSVPTG
QPRPSHHGVF AFLVTPSPYE LCAVPR* |
| mutated AA sequence | MGLEALVPLA VIVAIFLLLV DLMHRRQRWA ARYSPGPLPL PGLGNLLHVD FQNTPYCFDQ
LRRRFGDVFS LQLAWTPVVV LNGLAAVREA LVTHGEDTAD RPPVPITQIL GFGPRSQGRP
FRPNGLLDKA VSNVIASLTC GRRFEYDDPR FLRLLDLAQE GLKEESGFLR EVLNAVPVLL
HIPALAGKVL RFQKAFLTQL DELLTEHRMT WDPAQPPRDL TEAFLAEMEK AKGNPESSFN
DENLCIVVAD LFSAGMVTTS TTLAWGLLLM ILHPDVQRRV QQEIDDVIGQ VRRPEMGDQA
HMPYTTAVIH EVQRFGDIVP LGVTHMTSRD IEVQGFRIPK GTTLITNLSS VLKDEAVWEK
PFRFHPEHFL DAQGHFVKPE AFLPFSAGRR ACLGEPLARM ELFLFFTSLL QHFSFSVPTG
QPRPSHHGVF AFLVTPSPYE LCAVPR* |
| speed | 0.17 s |
|
|
Prediction |
polymorphism |
Model: simple_aae, prob: 5.24262818848668e-08 (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 CM900081)
- protein features (might be) affected
- splice site changes
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr22:42526694G>AN/A
show variant in all transcripts IGV
|
| HGNC symbol | CYP2D6 |
| Ensembl transcript ID | ENST00000389970 |
| Genbank transcript ID | N/A |
| UniProt peptide | P10635 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.100C>T
cDNA.190C>T
g.215C>T |
| AA changes | P34S Score: 74 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 34 |
| frameshift | no |
| known variant | Reference ID: rs1065852
| database | homozygous (A/A) | heterozygous | allele carriers |
| 1000G | 255 | 682 | 937 |
| ExAC | 3570 | 16502 | 20072 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM900081)
|
| regulatory features | Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | 4.426 | 0.997 | | 4.426 | 1 | | (flanking) | 1.745 | 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 increased | 221 | wt: 0.21 / mu: 0.37 | wt: GGGCTGCACGCTACCCACCAGGCCCCCTGCCACTGCCCGGG
mu: GGGCTGCACGCTACTCACCAGGCCCCCTGCCACTGCCCGGG | ccag|GCCC | | Donor marginally increased | 209 | wt: 0.6110 / mu: 0.6501 (marginal change - not scored) | wt: CTGCACGCTACCCAC
mu: CTGCACGCTACTCAC | GCAC|gcta |
|
| distance from splice site | 81 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 34 | M | H | R | R | Q | R | W | A | A | R | Y | P | P | G | P | L | P | L | P | G | L | G | N | L |
| mutated | not conserved | | 34 | M | H | R | R | Q | R | W | A | A | R | Y | S | P | G | P | L | P | L | P | G | L | G | N |
| Ptroglodytes | all identical | ENSPTRG00000042031 | 34 | M | H | R | R | Q | R | W | A | A | R | Y | P | P | G | P | L | P | L | P | G | L | G | N |
| Mmulatta | all identical | ENSMMUG00000017962 | 71 | M | H | R | R | Q | R | W | A | A | R | Y | P | P | G | P | L | P | L | P | G | L | G | N |
| Fcatus | no homologue | | | |
| Mmusculus | all identical | ENSMUSG00000061740 | 37 | M | H | W | R | Q | R | W | T | A | H | Y | P | P | G | P | M | P | W | P | V | L | G | N |
| Ggallus | all identical | ENSGALG00000011894 | 42 | M | K | R | R | K | K | W | S | - | R | Y | P | P | G | P | M | P | L | P | F | V | G | T |
| Trubripes | all identical | ENSTRUG00000017693 | 44 | L | - | - | R | N | R | R | S | G | S | F | P | P | G | P | T | A | I | P | I | I | G | N |
| Drerio | all identical | ENSDARG00000042980 | 40 | I | - | - | R | N | K | S | P | K | N | F | P | P | G | P | W | S | L | P | F | I | G | H |
| Dmelanogaster | no homologue | | | |
| Celegans | no homologue | | | |
| Xtropicalis | all identical | ENSXETG00000017472 | 44 | V | K | R | R | K | T | W | R | - | N | F | P | P | G | P | P | C | I | P | F | V | G | N |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 41 | 43 | TURN | | might get lost (downstream of altered splice site) | | 46 | 48 | HELIX | | might get lost (downstream of altered splice site) | | 54 | 65 | HELIX | | might get lost (downstream of altered splice site) | | 67 | 73 | STRAND | | might get lost (downstream of altered splice site) | | 76 | 81 | STRAND | | might get lost (downstream of altered splice site) | | 83 | 91 | HELIX | | might get lost (downstream of altered splice site) | | 92 | 94 | TURN | | might get lost (downstream of altered splice site) | | 95 | 97 | HELIX | | might get lost (downstream of altered splice site) | | 105 | 110 | HELIX | | might get lost (downstream of altered splice site) | | 118 | 121 | TURN | | might get lost (downstream of altered splice site) | | 126 | 141 | HELIX | | might get lost (downstream of altered splice site) | | 143 | 145 | TURN | | might get lost (downstream of altered splice site) | | 148 | 165 | HELIX | | might get lost (downstream of altered splice site) | | 166 | 169 | TURN | | might get lost (downstream of altered splice site) | | 175 | 191 | HELIX | | might get lost (downstream of altered splice site) | | 200 | 214 | HELIX | | might get lost (downstream of altered splice site) | | 219 | 226 | HELIX | | might get lost (downstream of altered splice site) | | 228 | 232 | HELIX | | might get lost (downstream of altered splice site) | | 234 | 240 | HELIX | | might get lost (downstream of altered splice site) | | 242 | 261 | HELIX | | might get lost (downstream of altered splice site) | | 271 | 281 | HELIX | | might get lost (downstream of altered splice site) | | 282 | 284 | TURN | | might get lost (downstream of altered splice site) | | 292 | 323 | HELIX | | might get lost (downstream of altered splice site) | | 301 | 301 | BINDING | Substrate (Probable). | might get lost (downstream of altered splice site) | | 325 | 338 | HELIX | | might get lost (downstream of altered splice site) | | 341 | 343 | STRAND | | might get lost (downstream of altered splice site) | | 347 | 350 | HELIX | | might get lost (downstream of altered splice site) | | 354 | 367 | HELIX | | might get lost (downstream of altered splice site) | | 370 | 372 | STRAND | | might get lost (downstream of altered splice site) | | 374 | 374 | CONFLICT | V -> M (in Ref. 1; AAA52153 and 2; CAA30807). | might get lost (downstream of altered splice site) | | 382 | 384 | STRAND | | might get lost (downstream of altered splice site) | | 387 | 389 | STRAND | | might get lost (downstream of altered splice site) | | 394 | 397 | STRAND | | might get lost (downstream of altered splice site) | | 399 | 403 | HELIX | | might get lost (downstream of altered splice site) | | 406 | 408 | TURN | | might get lost (downstream of altered splice site) | | 409 | 411 | STRAND | | might get lost (downstream of altered splice site) | | 417 | 420 | HELIX | | might get lost (downstream of altered splice site) | | 443 | 443 | METAL | Iron (heme axial ligand). | might get lost (downstream of altered splice site) | | 446 | 463 | HELIX | | might get lost (downstream of altered splice site) | | 464 | 467 | STRAND | | might get lost (downstream of altered splice site) | | 479 | 487 | STRAND | | might get lost (downstream of altered splice site) | | 492 | 496 | STRAND | | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 1494 / 1494 |
| position (AA) of stopcodon in wt / mu AA sequence | 498 / 498 |
| position of stopcodon in wt / mu cDNA | 1584 / 1584 |
| 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 | 91 / 91 |
| chromosome | 22 |
| strand | -1 |
| last intron/exon boundary | 1406 |
| theoretical NMD boundary in CDS | 1265 |
| length of CDS | 1494 |
| coding sequence (CDS) position | 100 |
cDNA position
(for ins/del: last normal base / first normal base) | 190 |
gDNA position
(for ins/del: last normal base / first normal base) | 215 |
chromosomal position
(for ins/del: last normal base / first normal base) | 42526694 |
| original gDNA sequence snippet | AACGCTGGGCTGCACGCTACCCACCAGGCCCCCTGCCACTG |
| altered gDNA sequence snippet | AACGCTGGGCTGCACGCTACTCACCAGGCCCCCTGCCACTG |
| original cDNA sequence snippet | AACGCTGGGCTGCACGCTACCCACCAGGCCCCCTGCCACTG |
| altered cDNA sequence snippet | AACGCTGGGCTGCACGCTACTCACCAGGCCCCCTGCCACTG |
| wildtype AA sequence | MGLEALVPLA VIVAIFLLLV DLMHRRQRWA ARYPPGPLPL PGLGNLLHVD FQNTPYCFDQ
LRRRFGDVFS LQLAWTPVVV LNGLAAVREA LVTHGEDTAD RPPVPITQIL GFGPRGQGVF
LARYGPAWRE QRRFSVSTLR NLGLGKKSLE QWVTEEAACL CAAFANHSGR PFRPNGLLDK
AVSNVIASLT CGRRFEYDDP RFLRLLDLAQ EGLKEESGFL REVLNAVPVL LHIPALAGKV
LRFQKAFLTQ LDELLTEHRM TWDPAQPPRD LTEAFLAEME KAKGNPESSF NDENLCIVVA
DLFSAGMVTT STTLAWGLLL MILHPDVQRR VQQEIDDVIG QVRRPEMGDQ AHMPYTTAVI
HEVQRFGDIV PLGVTHMTSR DIEVQGFRIP KGTTLITNLS SVLKDEAVWE KPFRFHPEHF
LDAQGHFVKP EAFLPFSAGR RACLGEPLAR MELFLFFTSL LQHFSFSVPT GQPRPSHHGV
FAFLVTPSPY ELCAVPR* |
| mutated AA sequence | MGLEALVPLA VIVAIFLLLV DLMHRRQRWA ARYSPGPLPL PGLGNLLHVD FQNTPYCFDQ
LRRRFGDVFS LQLAWTPVVV LNGLAAVREA LVTHGEDTAD RPPVPITQIL GFGPRGQGVF
LARYGPAWRE QRRFSVSTLR NLGLGKKSLE QWVTEEAACL CAAFANHSGR PFRPNGLLDK
AVSNVIASLT CGRRFEYDDP RFLRLLDLAQ EGLKEESGFL REVLNAVPVL LHIPALAGKV
LRFQKAFLTQ LDELLTEHRM TWDPAQPPRD LTEAFLAEME KAKGNPESSF NDENLCIVVA
DLFSAGMVTT STTLAWGLLL MILHPDVQRR VQQEIDDVIG QVRRPEMGDQ AHMPYTTAVI
HEVQRFGDIV PLGVTHMTSR DIEVQGFRIP KGTTLITNLS SVLKDEAVWE KPFRFHPEHF
LDAQGHFVKP EAFLPFSAGR RACLGEPLAR MELFLFFTSL LQHFSFSVPT GQPRPSHHGV
FAFLVTPSPY ELCAVPR* |
| speed | 0.98 s |
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