mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999613 (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)

chr6:25862466C>TN/A show variant in all transcripts IGV

HGNC symbol

SLC17A3

Ensembl transcript ID

ENST00000361703

Genbank transcript ID

NM_006632

UniProt peptide

O00476

alteration type

single base exchange

alteration region

CDS

DNA changes

c.298G>A
cDNA.377G>A
g.20049G>A

AA changes

A100T Score: 58 explain score(s)

position(s) of altered AA
if AA alteration in CDS

100

frameshift

known variant

Reference ID: rs1165165

database	homozygous (T/T)	heterozygous	allele carriers
1000G	139	806	945
ExAC	2782	20054	22836

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.112	0.004
	0.665	0.012
(flanking)	0.782	0.014

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	20049	wt: 0.76 / mu: 0.88	wt: TTCCTGCAAAGGTAA mu: TTCCTACAAAGGTAA	CCTG\|caaa
Acc gained	20052	0.39	mu: CCCCAAAGAGTCTTCCTACAAAGGTAAGCAACATAAGATAT	acaa\|AGGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

100

mutated

not conserved

100

Ptroglodytes

all conserved

ENSPTRG00000017793

178

Mmulatta

all identical

ENSMMUG00000002583

100

Fcatus

all identical

ENSFCAG00000014671

100

Mmusculus

not conserved

ENSMUSG00000036083

100

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000086739

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
126	146	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
154	174	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
179	179	CONFLICT	V -> F (in Ref. 1; AAB53423).	might get lost (downstream of altered splice site)
218	238	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
256	276	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
292	314	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
319	341	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
357	377	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
385	405	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1263 / 1263

position (AA) of stopcodon in wt / mu AA sequence

421 / 421

position of stopcodon in wt / mu cDNA

1342 / 1342

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

80 / 80

chromosome

strand

-1

last intron/exon boundary

1345

theoretical NMD boundary in CDS

1215

length of CDS

1263

coding sequence (CDS) position

298

cDNA position
(for ins/del: last normal base / first normal base)

377

gDNA position
(for ins/del: last normal base / first normal base)

20049

chromosomal position
(for ins/del: last normal base / first normal base)

25862466

original gDNA sequence snippet

AAGCCCCAAAGAGTCTTCCTGCAAAGGTAAGCAACATAAGA

altered gDNA sequence snippet

AAGCCCCAAAGAGTCTTCCTACAAAGGTAAGCAACATAAGA

original cDNA sequence snippet

AAGCCCCAAAGAGTCTTCCTGCAAAGTCCTCAATACTTGGG

altered cDNA sequence snippet

AAGCCCCAAAGAGTCTTCCTACAAAGTCCTCAATACTTGGG

wildtype AA sequence

MATKTELSPT ARESKNAQDM QVDETLIPRK VPSLCSARYG IALVLHFCNF TTIAQNVIMN
ITMVAMVNST SPQSQLNDSS EVLPVDSFGG LSKAPKSLPA KSSILGGQFA IWEKWGPPQE
RSRLCSIALS GMLLGCFTAI LIGGFISETL GWPFVFYIFG GVGCVCCLLW FVVIYDDPVS
YPWISTSEKE YIISSLKQQV GSSKQPLPIK AMLRSLPIWS ICLGCFSHQW LVSTMVVYIP
TYISSVYHVN IRDNGLLSAL PFIVAWVIGM VGGYLADFLL TKKFRLITVR KIATILGSLP
SSALIVSLPY LNSGYITATA LLTLSCGLST LCQSGIYINV LDIAPRYSSF LMGASRGFSS
IAPVIVPTVS GFLLSQDPEF GWRNVFFLLF AVNLLGLLFY LIFGEADVQE WAKERKLTRL
*

mutated AA sequence

MATKTELSPT ARESKNAQDM QVDETLIPRK VPSLCSARYG IALVLHFCNF TTIAQNVIMN
ITMVAMVNST SPQSQLNDSS EVLPVDSFGG LSKAPKSLPT KSSILGGQFA IWEKWGPPQE
RSRLCSIALS GMLLGCFTAI LIGGFISETL GWPFVFYIFG GVGCVCCLLW FVVIYDDPVS
YPWISTSEKE YIISSLKQQV GSSKQPLPIK AMLRSLPIWS ICLGCFSHQW LVSTMVVYIP
TYISSVYHVN IRDNGLLSAL PFIVAWVIGM VGGYLADFLL TKKFRLITVR KIATILGSLP
SSALIVSLPY LNSGYITATA LLTLSCGLST LCQSGIYINV LDIAPRYSSF LMGASRGFSS
IAPVIVPTVS GFLLSQDPEF GWRNVFFLLF AVNLLGLLFY LIFGEADVQE WAKERKLTRL
*

speed

1.15 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