Prediction |
polymorphism |
Model: without_aae, prob: 0.999981065288682 (classification due to TGP/ExAC,
real probability is shown anyway)
(explain) |
| Summary |
- homozygous in TGP or ExAC
- protein features (might be) affected
- splice site changes
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr11:26586801G>AN/A
show variant in all transcripts IGV
|
| HGNC symbol | ANO3 |
| Ensembl transcript ID | ENST00000531568 |
| Genbank transcript ID | N/A |
| UniProt peptide | Q9BYT9 |
| alteration type | single base exchange |
| alteration region | intron |
| DNA changes | g.375973G>A |
| AA changes | N/A |
position(s) of altered AA
if AA alteration in CDS | N/A |
| frameshift | N/A |
| known variant | Reference ID: rs15783
| database | homozygous (A/A) | heterozygous | allele carriers |
| 1000G | 801 | 1214 | 2015 |
| ExAC | 24245 | -15723 | 8522 |
|
| regulatory features | N/A |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | -1.153 | 0 | | 0.633 | 0.024 | | (flanking) | 2.281 | 0.038 |
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 | 375968 | wt: 0.7568 / mu: 0.7586 (marginal change - not scored) | wt: TAGAGTTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGC
mu: TAGAGTTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGC | gata|AGGG | | Donor increased | 375971 | wt: 0.86 / mu: 0.97 | wt: ATAAGGGGTAAACCC
mu: ATAAGGGATAAACCC | AAGG|ggta | | Donor marginally increased | 375964 | wt: 0.9935 / mu: 0.9937 (marginal change - not scored) | wt: TTTCTTGATAAGGGG
mu: TTTCTTGATAAGGGA | TCTT|gata | | Donor marginally increased | 375976 | wt: 0.7921 / mu: 0.8449 (marginal change - not scored) | wt: GGGTAAACCCAGTGA
mu: GGATAAACCCAGTGA | GTAA|accc | | Donor gained | 375969 | 0.86 | mu: TGATAAGGGATAAAC | ATAA|ggga |
|
| distance from splice site | 5475 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | N/A |
| protein features | | start (aa) | end (aa) | feature | details | | | 1 | 403 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 404 | 424 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 425 | 425 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 425 | 469 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 448 | 448 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 455 | 455 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 470 | 490 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 491 | 550 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 551 | 571 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 572 | 592 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 593 | 613 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 614 | 640 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 641 | 661 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 662 | 761 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 762 | 782 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 783 | 810 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 811 | 831 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 832 | 914 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 866 | 866 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 915 | 935 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 936 | 981 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) |
|
| length of protein | N/A |
| AA sequence altered | N/A |
| position of stopcodon in wt / mu CDS | N/A |
| position (AA) of stopcodon in wt / mu AA sequence | N/A |
| position of stopcodon in wt / mu cDNA | N/A |
| 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 | 234 / 234 |
| chromosome | 11 |
| strand | 1 |
| last intron/exon boundary | 2559 |
| theoretical NMD boundary in CDS | 2275 |
| length of CDS | 2508 |
| coding sequence (CDS) position | N/A |
cDNA position
(for ins/del: last normal base / first normal base) | N/A |
gDNA position
(for ins/del: last normal base / first normal base) | 375973 |
chromosomal position
(for ins/del: last normal base / first normal base) | 26586801 |
| original gDNA sequence snippet | TTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGCTATCA |
| altered gDNA sequence snippet | TTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGCTATCA |
| original cDNA sequence snippet | N/A |
| altered cDNA sequence snippet | N/A |
| wildtype AA sequence | MNYIASSGPL FKDGKKRIDY ILVYRKTNIQ YDKRNTFEKN LRAEGLMLEK EPAIASPDIM
FIKIHIPWDT LCKYAERLNI RMPFRKKCYY TDGRSKSMGR MQTYFRRIKN WMAQNPMVLD
KSAFPDLEES DCYTGPFSRA RIHHFIINNK DTFFSNATRS RIVYHMLERT KYENGISKVG
IRKLINNGSY IAAFPPHEGA YKSSQPIKTH GPQNNRHLLY ERWARWGMWY KHQPLDLIRL
YFGEKIGLYF AWLGWYTGML IPAAIVGLCV FFYGLFTMNN SQVSQEICKA TEVFMCPLCD
KNCSLQRLND SCIYAKVTYL FDNGGTVFFA IFMAIWATVF LEFWKRRRSI LTYTWDLIEW
EEEEETLRPQ FEAKYYKMEI VNPITGKPEP HQPSSDKVTR LLVSVSGIFF MISLVITAVF
GVVVYRLVVM EQFASFKWNF IKQYWQFATS AAAVCINFII IMLLNLAYEK IAYLLTNLEY
PRTESEWENS FALKMFLFQF VNLNSSIFYI AFFLGRFVGH PGKYNKLFDR WRLEECHPSG
CLIDLCLQMG VIMFLKQIWN NFMELGYPLI QNWWSRHKIK RGIHDASIPQ WENDWNLQPM
NLHGLMDEYL EMVLQFGFTT IFVAAFPLAP LLALLNNIIE IRLDAYKFVT QWRRPLPARA
TDIGIWLGIL EGIGILAVIT NAFVIAITSD YIPRFVYEYK YGPCANHVEP SENCLKGYVN
NSLSFFDLSE LGMGKSGYCR YRDYRGPPWS SKPYEFTLQY WHILAARLAF IIVFEHLVFG
IKSFIAYLIP DVPKGLHDRI RREKYLVQEM MYEAELEHLQ QQRRKSGQPV HHEWP* |
| mutated AA sequence | N/A |
| speed | 0.69 s |
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