Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 2.0078895964065e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24909475C>GN/A show variant in all transcripts   IGV
HGNC symbol SDR39U1
Ensembl transcript ID ENST00000538105
Genbank transcript ID N/A
UniProt peptide Q9NRG7
alteration type single base exchange
alteration region CDS
DNA changes c.450G>C
cDNA.554G>C
g.2637G>C
AA changes L150F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 150
frameshift no
known variant Reference ID: rs3211056
databasehomozygous (G/G)heterozygousallele carriers
1000G15427482290
ExAC---
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.0341
2.1491
(flanking)2.3571
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2648wt: 0.45 / mu: 0.78wt: CCAGACCTTGGGTGCTGCCCTGGGCCGCCGAGCCTTCATCC
mu: CCAGACCTTCGGTGCTGCCCTGGGCCGCCGAGCCTTCATCC		 ccct|GGGC
Acc marginally increased2638wt: 0.5307 / mu: 0.5743 (marginal change - not scored)wt: CTGAGTTTGCCCAGACCTTGGGTGCTGCCCTGGGCCGCCGA
mu: CTGAGTTTGCCCAGACCTTCGGTGCTGCCCTGGGCCGCCGA		 ttgg|GTGC
distance from splice site 224
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      150SSATNAEFAQTLGAALGRRAFIPL
mutated  not conserved    150SSATNAEFAQTFGAALGRRAFIP
Ptroglodytes  all identical  ENSPTRG00000006222  258SSATNAEFAQTLGAALGRRAFIP
Mmulatta  all identical  ENSMMUG00000009517  256SSATNAEFAQALGAALGHRAFIP
Fcatus  all identical  ENSFCAG00000005606  253KALGAALGRPAFIP
Mmusculus  all identical  ENSMUSG00000022223  232STTTNAEFAQALGAALGRPAFIP
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000006828  239VLNTNYEFTKELGRIMRRPTILP
Drerio  all identical  ENSDARG00000068215  235ALNTNFEFTKELGRVLKRPTIFP
Dmelanogaster  not conserved  FBgn0033769  239SKAFAKALHRPCIFG
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016929  236SSVKDTNSNFTQALSRALGRPAILP
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 636 / 636
position (AA) of stopcodon in wt / mu AA sequence 212 / 212
position of stopcodon in wt / mu cDNA 740 / 740
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 105 / 105
chromosome 14
strand -1
last intron/exon boundary 331
theoretical NMD boundary in CDS 176
length of CDS 636
coding sequence (CDS) position 450
cDNA position
(for ins/del: last normal base / first normal base)		 554
gDNA position
(for ins/del: last normal base / first normal base)		 2637
chromosomal position
(for ins/del: last normal base / first normal base)		 24909475
original gDNA sequence snippet GCTGAGTTTGCCCAGACCTTGGGTGCTGCCCTGGGCCGCCG
altered gDNA sequence snippet GCTGAGTTTGCCCAGACCTTCGGTGCTGCCCTGGGCCGCCG
original cDNA sequence snippet GCTGAGTTTGCCCAGACCTTGGGTGCTGCCCTGGGCCGCCG
altered cDNA sequence snippet GCTGAGTTTGCCCAGACCTTCGGTGCTGCCCTGGGCCGCCG
wildtype AA sequence MSSLHRGCRA AMPPSTWPER TSSTLSEAYY QPSLTAEYDE DSPGGDFDFF SNLVTKWEAA
ARLPGDSTRQ VVVRSGVVLG RGGGAMGHML LPFRLGLGGP IGSGHQFFPW IHIGDLAGIL
THALEANHVH GVLNGVAPSS ATNAEFAQTL GAALGRRAFI PLPSAVVQAV FGRQRAIMLL
EGQKVIPQRT LATGYQYSFP ELGAALKEIV A*
mutated AA sequence MSSLHRGCRA AMPPSTWPER TSSTLSEAYY QPSLTAEYDE DSPGGDFDFF SNLVTKWEAA
ARLPGDSTRQ VVVRSGVVLG RGGGAMGHML LPFRLGLGGP IGSGHQFFPW IHIGDLAGIL
THALEANHVH GVLNGVAPSS ATNAEFAQTF GAALGRRAFI PLPSAVVQAV FGRQRAIMLL
EGQKVIPQRT LATGYQYSFP ELGAALKEIV A*
speed 0.94 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