Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999985144777 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:130242166A>GN/A show variant in all transcripts   IGV
HGNC symbol LRSAM1
Ensembl transcript ID ENST00000300417
Genbank transcript ID NM_001005373
UniProt peptide Q6UWE0
alteration type single base exchange
alteration region CDS
DNA changes c.952A>G
cDNA.1324A>G
g.28402A>G
AA changes N318D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 318
frameshift no
known variant Reference ID: rs1539567
databasehomozygous (G/G)heterozygousallele carriers
1000G13479482295
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6260.6
1.4680.64
(flanking)3.2220.632
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 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      318EQGLSEHQRHLNAERQRLQEQLKQ
mutated  all conserved    318EQGLSEHQRHLDAERQRLQEQLK
Ptroglodytes  all conserved  ENSPTRG00000021390  318EQGLSEHQRHLDAERQRLQEQLK
Mmulatta  all conserved  ENSMMUG00000009956  320EQGLSEHQRHLDAERQRLQEQLK
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000026792  318EQDLSERQRCLDAERQQLQEQLK
Ggallus  not conserved  ENSGALG00000008819  318EEGLTKHQRHLEEERLKLLQQLK
Trubripes  all conserved  ENSTRUG00000000726  310EHGVSQQQKVQDAERMLMLEKVR
Drerio  not conserved  ENSDARG00000060683  310ELGVSQQQKAQEAERLKVLDKVR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000003943  316EKGLNKHQQQIQSERQRLQEQLK
protein features
start (aa)end (aa)featuredetails 
254380COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2172 / 2172
position (AA) of stopcodon in wt / mu AA sequence 724 / 724
position of stopcodon in wt / mu cDNA 2544 / 2544
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 373 / 373
chromosome 9
strand 1
last intron/exon boundary 2419
theoretical NMD boundary in CDS 1996
length of CDS 2172
coding sequence (CDS) position 952
cDNA position
(for ins/del: last normal base / first normal base)		 1324
gDNA position
(for ins/del: last normal base / first normal base)		 28402
chromosomal position
(for ins/del: last normal base / first normal base)		 130242166
original gDNA sequence snippet GTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTG
altered gDNA sequence snippet GTGAGCACCAGCGCCACCTCGACGCAGAGCGGCAGCGGCTG
original cDNA sequence snippet GTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTG
altered cDNA sequence snippet GTGAGCACCAGCGCCACCTCGACGCAGAGCGGCAGCGGCTG
wildtype AA sequence MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
EEQSRLEQGL SEHQRHLNAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQIKLIET
ELLQLTQLEL KRKSLDTESL QEMISEQRWA LSSLLQQLLK EKQQREEELR EILTELEAKS
ETRQENYWLI QYQRLLNQKP LSLKLQEEGM ERQLVALLEE LSAEHYLPIF AHHRLSLDLL
SQMSPGDLAK VGVSEAGLQH EILRRVQELL DAARIQPELK PPMGEVVTPT APQEPPESVR
PSAPPAELEV QASECVVCLE REAQMIFLNC GHVCCCQQCC QPLRTCPLCR QDIAQRLRIY
HSS*
mutated AA sequence MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA TCKVLQKKVL
IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL GQLTALQVLN VERNQLMQLP
RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR SLRTLNISGN EIQRLPQMLA HVRTLEMLSL
DASAMVYPPR EVCGAGTAAI LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD
RFSREELEWQ NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
EEQSRLEQGL SEHQRHLDAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK KSSEILKSLE
NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR LIQMAYESQR QNLVQQACSS
MAEMDERFQQ ILSWQQMDQN KAISQILQES AMQKAAFEAL QVKKDLMHRQ IRSQIKLIET
ELLQLTQLEL KRKSLDTESL QEMISEQRWA LSSLLQQLLK EKQQREEELR EILTELEAKS
ETRQENYWLI QYQRLLNQKP LSLKLQEEGM ERQLVALLEE LSAEHYLPIF AHHRLSLDLL
SQMSPGDLAK VGVSEAGLQH EILRRVQELL DAARIQPELK PPMGEVVTPT APQEPPESVR
PSAPPAELEV QASECVVCLE REAQMIFLNC GHVCCCQQCC QPLRTCPLCR QDIAQRLRIY
HSS*
speed 1.08 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