Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999989992597 (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 CM1514575)
  • protein features (might be) affected
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:16380243A>GN/A show variant in all transcripts   IGV
HGNC symbol CLCNKB
Ensembl transcript ID ENST00000375667
Genbank transcript ID NM_001165945
UniProt peptide P51801
alteration type single base exchange
alteration region CDS
DNA changes c.1225A>G
cDNA.1408A>G
g.9972A>G
AA changes K409E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 409
frameshift no
known variant Reference ID: rs2275166
databasehomozygous (G/G)heterozygousallele carriers
1000G12859442229
ExAC26455-201436312

known disease mutation at this position, please check HGMD for details (HGMD ID CM1514575)
regulatory features H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3630.015
0.1520.163
(flanking)1.7970.893
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      409VVKVVTSTDVAKYPLVESTESQIL
mutated  all conserved    409VVKVVTSTDVAEYPLVESTESQI
Ptroglodytes  all conserved  ENSPTRG00000000217  577VVKVVTSTDVTEY-LVESTESQI
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000010168  579VVKVVTSTDMAKYLLVESTESQI
Mmusculus  all conserved  ENSMUSG00000033770  578VVKVVTSTDVSQYPLVETRESQT
Ggallus  all conserved  ENSGALG00000003713  576VLAALNATTDKEYAVIESKESPM
Trubripes  all conserved  ENSTRUG00000001694  586QIPVVDSNESGN
Drerio  all conserved  ENSDARG00000022560  594SELPVVESRDFSV
Dmelanogaster  not conserved  FBgn0051116  691SLPLVDSPDNMI
Celegans  not conserved  E04F6.11  587ALETKTRIRAFPLVENMESLA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
396416TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1554 / 1554
position (AA) of stopcodon in wt / mu AA sequence 518 / 518
position of stopcodon in wt / mu cDNA 1737 / 1737
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 184 / 184
chromosome 1
strand 1
last intron/exon boundary 1690
theoretical NMD boundary in CDS 1456
length of CDS 1554
coding sequence (CDS) position 1225
cDNA position
(for ins/del: last normal base / first normal base)		 1408
gDNA position
(for ins/del: last normal base / first normal base)		 9972
chromosomal position
(for ins/del: last normal base / first normal base)		 16380243
original gDNA sequence snippet TGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
altered gDNA sequence snippet TGACCTCCACAGACGTGGCCGAGTATCCCCTGGTGGAGAGC
original cDNA sequence snippet TGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGC
altered cDNA sequence snippet TGACCTCCACAGACGTGGCCGAGTATCCCCTGGTGGAGAGC
wildtype AA sequence MPCPPLLSVP VRAAGEQDRW VREEVTWGGG PTVTGGWGWR AHLRSVSPPG VLFSIEVMSS
HFSVWDYWRG FFAATCGAFM FRLLAVFNSE QETITSLYKT SFRVDVPFDL PEIFFFVALG
GLCGILGSAY LFCQRIFFGF IRNNRFSSKL LATSKPVYSA LATLVLASIT YPPSAGRFLA
SRLSMKQHLD SLFDNHSWAL MTQNSSPPWP EELDPQHLWW EWYHPRFTIF GTLAFFLVMK
FWMLILATTI PMPAGYFMPI FVYGAAIGRL FGETLSFIFP EGIVAGGITN PIMPGGYALA
GAAAFSGAVT HTISTALLAF EVTGQIVHAL PVLMAVLAAN AIAQSCQPSF YDGTVIVKKL
PYLPRILGRN IGSHRVRVEH FMNHSITTLA KDMPLEEVVK VVTSTDVAKY PLVESTESQI
LVGIVRRAQL VQALKAEPPS WAPGHQCLQD ILAAGCPTEP VTLKLSPETS LHEAHNLFEL
LNLHSLFVTS RGRAVGCVSW VEMKKAISNL TNPPAPK*
mutated AA sequence MPCPPLLSVP VRAAGEQDRW VREEVTWGGG PTVTGGWGWR AHLRSVSPPG VLFSIEVMSS
HFSVWDYWRG FFAATCGAFM FRLLAVFNSE QETITSLYKT SFRVDVPFDL PEIFFFVALG
GLCGILGSAY LFCQRIFFGF IRNNRFSSKL LATSKPVYSA LATLVLASIT YPPSAGRFLA
SRLSMKQHLD SLFDNHSWAL MTQNSSPPWP EELDPQHLWW EWYHPRFTIF GTLAFFLVMK
FWMLILATTI PMPAGYFMPI FVYGAAIGRL FGETLSFIFP EGIVAGGITN PIMPGGYALA
GAAAFSGAVT HTISTALLAF EVTGQIVHAL PVLMAVLAAN AIAQSCQPSF YDGTVIVKKL
PYLPRILGRN IGSHRVRVEH FMNHSITTLA KDMPLEEVVK VVTSTDVAEY PLVESTESQI
LVGIVRRAQL VQALKAEPPS WAPGHQCLQD ILAAGCPTEP VTLKLSPETS LHEAHNLFEL
LNLHSLFVTS RGRAVGCVSW VEMKKAISNL TNPPAPK*
speed 0.49 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