Prediction |
disease causing |
Model: simple_aae, prob: 0.999999981533293
(explain) |
Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM024497)
- 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) | chr11:134131232G>AN/A
show variant in all transcripts IGV
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HGNC symbol | ACAD8 |
Ensembl transcript ID | ENST00000374752 |
Genbank transcript ID | N/A |
UniProt peptide | Q9UKU7 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.524G>A cDNA.564G>A g.7844G>A |
AA changes | R175Q Score: 43 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 175 |
frameshift | no |
known variant | Reference ID: rs121908422
database | homozygous (A/A) | heterozygous | allele carriers |
1000G | - | - | - |
ExAC | 0 | 5 | 5 |
known disease mutation at this position, please check HGMD for details (HGMD ID CM024497)
known disease mutation at this position, please check HGMD for details (HGMD ID CM024497) known disease mutation at this position, please check HGMD for details (HGMD ID CM024497)
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regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 2.799 | 1 | | 5.583 | 1 | (flanking) | -1.262 | 0.306 | 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 | 7842 | wt: 0.9345 / mu: 0.9522 (marginal change - not scored) | wt: AATGTCCGGAAGCAG mu: AATGTCCAGAAGCAG | TGTC|cgga | Donor gained | 7844 | 0.45 | mu: TGTCCAGAAGCAGTT | TCCA|gaag | Donor gained | 7839 | 0.66 | mu: CTCAATGTCCAGAAG | CAAT|gtcc |
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distance from splice site | 35 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 175 | S | V | I | L | T | R | D | H | L | N | V | R | K | Q | F | G | E | P | L | A | S | N | Q | Y |
mutated | all conserved | | 175 | S | V | I | L | T | R | D | H | L | N | V | Q | K | Q | F | G | E | | | | | | |
Ptroglodytes | all identical | ENSPTRG00000004496 | 302 | S | V | I | L | T | R | D | H | L | N | V | R | K | Q | F | G | E | P | L | A | S | N | Q |
Mmulatta | all identical | ENSMMUG00000007107 | 302 | S | V | I | L | T | R | D | H | L | K | V | R | K | Q | F | G | E | P | L | A | S | N | Q |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000031969 | 300 | S | V | I | L | T | Q | E | H | L | K | V | R | K | Q | F | G | A | P | L | A | R | S | Q |
Ggallus | all identical | ENSGALG00000001557 | 299 | S | V | L | L | A | Q | E | H | L | T | V | R | K | Q | F | G | E | P | L | A | S | N | Q |
Trubripes | no homologue | | | |
Drerio | all identical | ENSDARG00000042658 | 304 | S | V | L | L | A | R | D | H | M | C | V | R | K | Q | F | G | E | T | L | A | N | S | Q |
Dmelanogaster | no homologue | | | |
Celegans | all identical | F28A10.6 | 290 | S | M | D | L | A | I | E | H | L | K | Y | R | K | Q | F | G | K | S | L | A | D | F | Q |
Xtropicalis | all identical | ENSXETG00000008327 | 303 | S | V | L | L | A | R | D | H | L | G | V | R | K | Q | F | G | E | P | L | S | H | N | Q |
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protein features | start (aa) | end (aa) | feature | details | | 175 | 179 | STRAND | | lost | 182 | 193 | STRAND | | might get lost (downstream of altered splice site) | 191 | 193 | NP_BIND | FAD. | might get lost (downstream of altered splice site) | 194 | 197 | TURN | | might get lost (downstream of altered splice site) | 199 | 211 | STRAND | | might get lost (downstream of altered splice site) | 210 | 210 | CONFLICT | P -> L (in Ref. 4; AAH01964). | might get lost (downstream of altered splice site) | 212 | 214 | HELIX | | might get lost (downstream of altered splice site) | 215 | 221 | STRAND | | might get lost (downstream of altered splice site) | 227 | 229 | STRAND | | might get lost (downstream of altered splice site) | 235 | 237 | STRAND | | might get lost (downstream of altered splice site) | 243 | 254 | STRAND | | might get lost (downstream of altered splice site) | 255 | 257 | HELIX | | might get lost (downstream of altered splice site) | 258 | 261 | STRAND | | might get lost (downstream of altered splice site) | 265 | 301 | HELIX | | might get lost (downstream of altered splice site) | 274 | 277 | REGION | Substrate binding. | might get lost (downstream of altered splice site) | 302 | 302 | BINDING | FAD; shared with dimeric partner. | might get lost (downstream of altered splice site) | 309 | 311 | HELIX | | might get lost (downstream of altered splice site) | 312 | 313 | NP_BIND | FAD; shared with dimeric partner. | might get lost (downstream of altered splice site) | 313 | 341 | HELIX | | might get lost (downstream of altered splice site) | 347 | 372 | HELIX | | might get lost (downstream of altered splice site) | 371 | 375 | NP_BIND | FAD; shared with dimeric partner. | might get lost (downstream of altered splice site) | 373 | 378 | HELIX | | might get lost (downstream of altered splice site) | 384 | 393 | HELIX | | might get lost (downstream of altered splice site) | 394 | 396 | TURN | | might get lost (downstream of altered splice site) | 397 | 399 | STRAND | | might get lost (downstream of altered splice site) | 398 | 398 | ACT_SITE | Proton acceptor. | might get lost (downstream of altered splice site) | 399 | 399 | BINDING | Substrate; via amide nitrogen. | might get lost (downstream of altered splice site) | 400 | 402 | NP_BIND | FAD. | might get lost (downstream of altered splice site) | 401 | 414 | HELIX | | might get lost (downstream of altered splice site) | 410 | 410 | BINDING | Substrate. | 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 | 867 / 867 |
position (AA) of stopcodon in wt / mu AA sequence | 289 / 289 |
position of stopcodon in wt / mu cDNA | 907 / 907 |
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 | 41 / 41 |
chromosome | 11 |
strand | 1 |
last intron/exon boundary | 855 |
theoretical NMD boundary in CDS | 764 |
length of CDS | 867 |
coding sequence (CDS) position | 524 |
cDNA position (for ins/del: last normal base / first normal base) | 564 |
gDNA position (for ins/del: last normal base / first normal base) | 7844 |
chromosomal position (for ins/del: last normal base / first normal base) | 134131232 |
original gDNA sequence snippet | CCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTC |
altered gDNA sequence snippet | CCGAGACCACCTCAATGTCCAGAAGCAGTTTGGAGAGCCTC |
original cDNA sequence snippet | CCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTC |
altered cDNA sequence snippet | CCGAGACCACCTCAATGTCCAGAAGCAGTTTGGAGAGCCTC |
wildtype AA sequence | MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDRSGS DAASLLTSAK KQGDHYILNG SKAFISGAGE SDIYVVMCRT GGPGPKGISC IVVEKGTPGL SFGKKEKKVG WNSQPTRAVI FEDCAVPVAN RIGSEGQGFL IAVRGLNGGR INIASCSLGA AHASVILTRD HLNVRKQFGE PLASNQYLQF TLADMATRLV AARLMVRNAA VALQEERKDA VALCSMAKLF ATDECFAICN QALQMHGGYG YLKDYAVQQY VRDSRVHQIL EGSNEVMRIL ISRSLLQE* |
mutated AA sequence | MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDRSGS DAASLLTSAK KQGDHYILNG SKAFISGAGE SDIYVVMCRT GGPGPKGISC IVVEKGTPGL SFGKKEKKVG WNSQPTRAVI FEDCAVPVAN RIGSEGQGFL IAVRGLNGGR INIASCSLGA AHASVILTRD HLNVQKQFGE PLASNQYLQF TLADMATRLV AARLMVRNAA VALQEERKDA VALCSMAKLF ATDECFAICN QALQMHGGYG YLKDYAVQQY VRDSRVHQIL EGSNEVMRIL ISRSLLQE* |
speed | 0.59 s |
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