Prediction |
polymorphism |
Model: simple_aae, prob: 1 (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 CM067657)
- 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) | chr1:158324425A>GN/A
show variant in all transcripts IGV
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HGNC symbol | CD1E |
Ensembl transcript ID | ENST00000434258 |
Genbank transcript ID | N/A |
UniProt peptide | P15812 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.311A>G cDNA.322A>G g.1172A>G |
AA changes | Q104R Score: 43 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 104 |
frameshift | no |
known variant | Reference ID: rs1065457
database | homozygous (G/G) | heterozygous | allele carriers |
1000G | 1044 | 999 | 2043 |
ExAC | 13486 | 5795 | 19281 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM067657)
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regulatory features | N/A |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | -0.949 | 0 | | -1.691 | 0 | (flanking) | -1.601 | 0 | 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 | 1163 | wt: 0.62 / mu: 0.69 | wt: GTTCCAGTTATACTTCCATAGTTTTATCCAGATAGTGCAAG mu: GTTCCAGTTATACTTCCATAGTTTTATCCGGATAGTGCAAG | atag|TTTT | Acc marginally increased | 1176 | wt: 0.4363 / mu: 0.4711 (marginal change - not scored) | wt: TTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGGTCA mu: TTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGGTCA | gata|GTGC | Acc marginally increased | 1171 | wt: 0.9201 / mu: 0.9705 (marginal change - not scored) | wt: TATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCT mu: TATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCT | atcc|AGAT | Acc marginally increased | 1173 | wt: 0.6375 / mu: 0.6412 (marginal change - not scored) | wt: TACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTGG mu: TACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTGG | ccag|ATAG | Donor increased | 1171 | wt: 0.67 / mu: 0.99 | wt: TTATCCAGATAGTGC mu: TTATCCGGATAGTGC | ATCC|agat |
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distance from splice site | 39 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 104 | S | L | F | Q | L | Y | F | H | S | F | I | Q | I | V | Q | A | S | A | G | Q | F | Q | L | E |
mutated | all conserved | | 104 | S | L | F | Q | L | Y | F | H | S | F | I | R | I | V | Q | A | S | A | G | Q | F | Q | L |
Ptroglodytes | all conserved | ENSPTRG00000001501 | 106 | S | L | F | Q | L | Y | F | H | S | F | I | R | I | V | Q | A | S | A | G | Q | F | Q | L |
Mmulatta | all conserved | ENSMMUG00000016784 | 106 | S | L | F | Q | L | Y | F | N | G | F | V | R | I | V | Q | A | S | A | G | Q | F | Q | L |
Fcatus | no homologue | | | |
Mmusculus | no homologue | | | |
Ggallus | all conserved | ENSGALG00000012494 | 101 | | | | K | S | Y | V | R | D | F | S | R | L | V | Q | M | Y | T | - | - | - | T | V |
Trubripes | no homologue | | | |
Drerio | no homologue | | | |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | no homologue | | | |
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protein features | start (aa) | end (aa) | feature | details | | 87 | 111 | HELIX | | lost | 112 | 116 | TURN | | might get lost (downstream of altered splice site) | 119 | 129 | STRAND | | might get lost (downstream of altered splice site) | 132 | 134 | STRAND | | might get lost (downstream of altered splice site) | 136 | 139 | STRAND | | might get lost (downstream of altered splice site) | 142 | 145 | STRAND | | might get lost (downstream of altered splice site) | 159 | 161 | TURN | | might get lost (downstream of altered splice site) | 163 | 174 | HELIX | | might get lost (downstream of altered splice site) | 176 | 201 | HELIX | | might get lost (downstream of altered splice site) | 191 | 301 | DOMAIN | Ig-like. | might get lost (downstream of altered splice site) | 202 | 205 | TURN | | might get lost (downstream of altered splice site) | 209 | 209 | CONFLICT | V -> A (in Ref. 3; BAG64215). | might get lost (downstream of altered splice site) | 222 | 224 | STRAND | | might get lost (downstream of altered splice site) | 228 | 230 | STRAND | | might get lost (downstream of altered splice site) | 230 | 230 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 232 | 234 | STRAND | | might get lost (downstream of altered splice site) | 236 | 238 | STRAND | | might get lost (downstream of altered splice site) | 241 | 244 | STRAND | | might get lost (downstream of altered splice site) | 248 | 248 | CONFLICT | E -> G (in Ref. 3; BAG64215). | might get lost (downstream of altered splice site) | 260 | 262 | STRAND | | might get lost (downstream of altered splice site) | 263 | 265 | TURN | | might get lost (downstream of altered splice site) | 266 | 269 | STRAND | | might get lost (downstream of altered splice site) | 271 | 273 | STRAND | | might get lost (downstream of altered splice site) | 277 | 280 | HELIX | | might get lost (downstream of altered splice site) | 285 | 285 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 285 | 288 | STRAND | | might get lost (downstream of altered splice site) | 290 | 292 | TURN | | might get lost (downstream of altered splice site) | 300 | 302 | STRAND | | might get lost (downstream of altered splice site) | 305 | 325 | TRANSMEM | Helical; (Potential). | 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 | 1023 / 1023 |
position (AA) of stopcodon in wt / mu AA sequence | 341 / 341 |
position of stopcodon in wt / mu cDNA | 1034 / 1034 |
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 | 12 / 12 |
chromosome | 1 |
strand | 1 |
last intron/exon boundary | 631 |
theoretical NMD boundary in CDS | 569 |
length of CDS | 1023 |
coding sequence (CDS) position | 311 |
cDNA position (for ins/del: last normal base / first normal base) | 322 |
gDNA position (for ins/del: last normal base / first normal base) | 1172 |
chromosomal position (for ins/del: last normal base / first normal base) | 158324425 |
original gDNA sequence snippet | ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG |
altered gDNA sequence snippet | ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG |
original cDNA sequence snippet | ATACTTCCATAGTTTTATCCAGATAGTGCAAGCTTCTGCTG |
altered cDNA sequence snippet | ATACTTCCATAGTTTTATCCGGATAGTGCAAGCTTCTGCTG |
wildtype AA sequence | MIKSRVKRYR RRRGSQRAPQ ALQSYHLAAE EQLSFRMLQT SSFANHSWAH SEGSGWLGDL QTHGWDTVLG TIRFLKPWSH GNFSKQELKN LQSLFQLYFH SFIQIVQASA GQFQLEYPFE IQILAGCRMN APQIFLNMAY QGSDFLSFQG ISWEPSPGAG IRAQNICKVL NRYLDIKEIL QSLLGHTCPR FLAGLMEAGE SELKRKVKPE AWLSCGPSPG PGRLQLVCHV SGFYPKPVWV MWMRGEQEQR GTQRGDVLPN ADETWYLRAT LDVAAGEAAG LSCRVKHSSL GGHDLIIHWG EKQLRLCWEI MKIALGLLSV GLRKWVGMLG TRRVKLGQSK * |
mutated AA sequence | MIKSRVKRYR RRRGSQRAPQ ALQSYHLAAE EQLSFRMLQT SSFANHSWAH SEGSGWLGDL QTHGWDTVLG TIRFLKPWSH GNFSKQELKN LQSLFQLYFH SFIRIVQASA GQFQLEYPFE IQILAGCRMN APQIFLNMAY QGSDFLSFQG ISWEPSPGAG IRAQNICKVL NRYLDIKEIL QSLLGHTCPR FLAGLMEAGE SELKRKVKPE AWLSCGPSPG PGRLQLVCHV SGFYPKPVWV MWMRGEQEQR GTQRGDVLPN ADETWYLRAT LDVAAGEAAG LSCRVKHSSL GGHDLIIHWG EKQLRLCWEI MKIALGLLSV GLRKWVGMLG TRRVKLGQSK * |
speed | 0.17 s |
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