Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999671 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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) chr11:114401611A>GN/A show variant in all transcripts   IGV
HGNC symbol NXPE1
Ensembl transcript ID ENST00000424269
Genbank transcript ID N/A
UniProt peptide Q8N323
alteration type single base exchange
alteration region CDS
DNA changes c.119T>C
cDNA.119T>C
g.29007T>C
AA changes L40S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
frameshift no
known variant Reference ID: rs7944960
databasehomozygous (G/G)heterozygousallele carriers
1000G240716956
ExAC23281553217860
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0780.002
0.2310.001
(flanking)-1.5630
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased29001wt: 0.23 / mu: 0.29wt: ATTTCAGCTTTGGTCTGCTCTAAACTTATCCATCTCTGTCC
mu: ATTTCAGCTTTGGTCTGCTCTAAACTCATCCATCTCTGTCC		 ctct|AAAC
Acc increased29002wt: 0.52 / mu: 0.58wt: TTTCAGCTTTGGTCTGCTCTAAACTTATCCATCTCTGTCCA
mu: TTTCAGCTTTGGTCTGCTCTAAACTCATCCATCTCTGTCCA		 tcta|AACT
Donor gained289990.37mu: TCTGCTCTAAACTCA TGCT|ctaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      40QNFTKLWSALNLSISVHYWNNSAK
mutated  not conserved    40QNFTKLWSALNSSISVHYWNNSA
Ptroglodytes  no alignment  ENSPTRG00000004307  n/a
Mmulatta  no alignment  ENSMMUG00000012268  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000003928  n/a
protein features
start (aa)end (aa)featuredetails 
3939CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
491491CONFLICTG -> V (in Ref. 4; AAH29049).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1644 / 1644
position (AA) of stopcodon in wt / mu AA sequence 548 / 548
position of stopcodon in wt / mu cDNA 1644 / 1644
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 1 / 1
chromosome 11
strand -1
last intron/exon boundary 1109
theoretical NMD boundary in CDS 1058
length of CDS 1644
coding sequence (CDS) position 119
cDNA position
(for ins/del: last normal base / first normal base)		 119
gDNA position
(for ins/del: last normal base / first normal base)		 29007
chromosomal position
(for ins/del: last normal base / first normal base)		 114401611
original gDNA sequence snippet GCTTTGGTCTGCTCTAAACTTATCCATCTCTGTCCATTACT
altered gDNA sequence snippet GCTTTGGTCTGCTCTAAACTCATCCATCTCTGTCCATTACT
original cDNA sequence snippet GCTTTGGTCTGCTCTAAACTTATCCATCTCTGTCCATTACT
altered cDNA sequence snippet GCTTTGGTCTGCTCTAAACTCATCCATCTCTGTCCATTACT
wildtype AA sequence MSSNTMLQKT LLILISFSVV TWMIFIISQN FTKLWSALNL SISVHYWNNS AKSLFPKTSL
IPLKPLTETE LRIKEIIEKL DQQIPPRPFT HVNTTTSATH STATILNPRD TYCRGDQLDI
LLEVRDHLGQ RKQYGGDFLR ARMSSPALTA GASGKVMDFN NGTYLVSFTL FWEGQVSLSL
LLIHPSEGAS ALWRARNQGY DKIIFKGKFV NGTSHVFTEC GLTLNSNAEL CEYLDDRDQE
AFYCMKPQHM PCEALTYMTT RNREVSYLTD KENSLFHRSK VGVEMMKDRK HIDVTNCNKR
EKIEETCQVG MKPPVPGGYT LQGKWITTFC NQVQLDTIKI NGCLKGKLIY LLGDSTLRQW
IYYFPKVVKT LKFFDLHETG IFKKHLLLDA ERHTQIQWKK HSYPFVTFQL YSLIDHDYIP
REIDRLSGDK NTAIVITFGQ HFRPFPIDIF IRRAIGVQKA IERLFLRSPA TKVIIKTENI
REMHIETERF GDFHGYIHYL IMKDIFKDLN VGIIDAWDMT IAYGTDTIHP PDHVIGNQIN
MFLNYIC*
mutated AA sequence MSSNTMLQKT LLILISFSVV TWMIFIISQN FTKLWSALNS SISVHYWNNS AKSLFPKTSL
IPLKPLTETE LRIKEIIEKL DQQIPPRPFT HVNTTTSATH STATILNPRD TYCRGDQLDI
LLEVRDHLGQ RKQYGGDFLR ARMSSPALTA GASGKVMDFN NGTYLVSFTL FWEGQVSLSL
LLIHPSEGAS ALWRARNQGY DKIIFKGKFV NGTSHVFTEC GLTLNSNAEL CEYLDDRDQE
AFYCMKPQHM PCEALTYMTT RNREVSYLTD KENSLFHRSK VGVEMMKDRK HIDVTNCNKR
EKIEETCQVG MKPPVPGGYT LQGKWITTFC NQVQLDTIKI NGCLKGKLIY LLGDSTLRQW
IYYFPKVVKT LKFFDLHETG IFKKHLLLDA ERHTQIQWKK HSYPFVTFQL YSLIDHDYIP
REIDRLSGDK NTAIVITFGQ HFRPFPIDIF IRRAIGVQKA IERLFLRSPA TKVIIKTENI
REMHIETERF GDFHGYIHYL IMKDIFKDLN VGIIDAWDMT IAYGTDTIHP PDHVIGNQIN
MFLNYIC*
speed 1.01 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