Yum, tasty mutations...

mutation t@sting

 documentation

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 ENST00000256737
Genbank transcript ID NM_031418
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
databasehomozygous (A/A)heterozygousallele carriers
1000G80112142015
ExAC24245-157238522
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1530
0.6330.024
(flanking)2.2810.038
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased375968wt: 0.7568 / mu: 0.7586 (marginal change - not scored)wt: TAGAGTTGTTTTTTCTTGATAAGGGGTAAACCCAGTGAAGC
mu: TAGAGTTGTTTTTTCTTGATAAGGGATAAACCCAGTGAAGC		 gata|AGGG
Donor increased375971wt: 0.86 / mu: 0.97wt: ATAAGGGGTAAACCC
mu: ATAAGGGATAAACCC		 AAGG|ggta
Donor marginally increased375964wt: 0.9935 / mu: 0.9937 (marginal change - not scored)wt: TTTCTTGATAAGGGG
mu: TTTCTTGATAAGGGA		 TCTT|gata
Donor marginally increased375976wt: 0.7921 / mu: 0.8449 (marginal change - not scored)wt: GGGTAAACCCAGTGA
mu: GGATAAACCCAGTGA		 GTAA|accc
Donor gained3759690.86mu: 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)featuredetails 
470490TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
491550TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
551571TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
572592TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
614640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
641661TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
662761TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
762782TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
783810TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
811831TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
832914TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
866866CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
915935TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
936981TOPO_DOMCytoplasmic (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 853 / 853
chromosome 11
strand 1
last intron/exon boundary 3616
theoretical NMD boundary in CDS 2713
length of CDS 2946
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 MVHHSGSIQS FKQQKGMNIS KSEITKETSL KPSRRSLPCL AQSYAYSKSL SQSTSLFQST
ESESQAPTSI TLISTDKAEQ VNTEENKNDS VLRCSFADLS DFCLALGKDK DYTDESEHAT
YDRSRLINDF VIKDKSEFKT KLSKNDMNYI ASSGPLFKDG KKRIDYILVY RKTNIQYDKR
NTFEKNLRAE GLMLEKEPAI ASPDIMFIKI HIPWDTLCKY AERLNIRMPF RKKCYYTDGR
SKSMGRMQTY FRRIKNWMAQ NPMVLDKSAF PDLEESDCYT GPFSRARIHH FIINNKDTFF
SNATRSRIVY HMLERTKYEN GISKVGIRKL INNGSYIAAF PPHEGAYKSS QPIKTHGPQN
NRHLLYERWA RWGMWYKHQP LDLIRLYFGE KIGLYFAWLG WYTGMLIPAA IVGLCVFFYG
LFTMNNSQVS QEICKATEVF MCPLCDKNCS LQRLNDSCIY AKVTYLFDNG GTVFFAIFMA
IWATVFLEFW KRRRSILTYT WDLIEWEEEE ETLRPQFEAK YYKMEIVNPI TGKPEPHQPS
SDKVTRLLVS VSGIFFMISL VITAVFGVVV YRLVVMEQFA SFKWNFIKQY WQFATSAAAV
CINFIIIMLL NLAYEKIAYL LTNLEYPRTE SEWENSFALK MFLFQFVNLN SSIFYIAFFL
GRFVGHPGKY NKLFDRWRLE ECHPSGCLID LCLQMGVIMF LKQIWNNFME LGYPLIQNWW
SRHKIKRGIH DASIPQWEND WNLQPMNLHG LMDEYLEMVL QFGFTTIFVA AFPLAPLLAL
LNNIIEIRLD AYKFVTQWRR PLPARATDIG IWLGILEGIG ILAVITNAFV IAITSDYIPR
FVYEYKYGPC ANHVEPSENC LKGYVNNSLS FFDLSELGMG KSGYCRYRDY RGPPWSSKPY
EFTLQYWHIL AARLAFIIVF EHLVFGIKSF IAYLIPDVPK GLHDRIRREK YLVQEMMYEA
ELEHLQQQRR KSGQPVHHEW P*
mutated AA sequence N/A
speed 0.59 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project