mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999907545834 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr8:17743020G>AN/A show variant in all transcripts IGV

HGNC symbol

FGL1

Ensembl transcript ID

ENST00000521427

Genbank transcript ID

N/A

UniProt peptide

Q08830

alteration type

single base exchange

alteration region

intron

DNA changes

g.24855C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs484373

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1127	997	2124
ExAC	31783	-30799	984

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.182	0
	0.297	0
(flanking)	-0.56	0

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

splice sites

splice site change before start ATG (at aa -8) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	24845	wt: 0.7436 / mu: 0.7808 (marginal change - not scored)	wt: TCAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGG mu: TCAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGG	acca\|CCGC
Acc marginally increased	24857	wt: 0.2953 / mu: 0.3372 (marginal change - not scored)	wt: TTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGGTA mu: TTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGGTA	acaa\|TGGG
Acc marginally increased	24846	wt: 0.8360 / mu: 0.8453 (marginal change - not scored)	wt: CAGTTTCATCCTTGTTACCACCGCTCTGACAATGGGCAGGG mu: CAGTTTCATCCTTGTTACCACCGCTCTGATAATGGGCAGGG	ccac\|CGCT
Donor marginally increased	24853	wt: 0.2685 / mu: 0.2877 (marginal change - not scored)	wt: GCTCTGACAATGGGC mu: GCTCTGATAATGGGC	TCTG\|acaa
Donor marginally increased	24858	wt: 0.2739 / mu: 0.3279 (marginal change - not scored)	wt: GACAATGGGCAGGGA mu: GATAATGGGCAGGGA	CAAT\|gggc
Donor increased	24859	wt: 0.51 / mu: 0.61	wt: ACAATGGGCAGGGAA mu: ATAATGGGCAGGGAA	AATG\|ggca

distance from splice site

3332

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	22	SIGNAL		might get lost (downstream of altered splice site)
23	61	COILED	Potential.	might get lost (downstream of altered splice site)
26	26	DISULFID	Interchain (Potential).	might get lost (downstream of altered splice site)
26	26	DISULFID	Interchain (Potential).	might get lost (downstream of altered splice site)
69	69	CONFLICT	N -> D (in Ref. 1; BAA03336).	might get lost (downstream of altered splice site)
74	306	DOMAIN	Fibrinogen C-terminal.	might get lost (downstream of altered splice site)
83	83	DISULFID	By similarity.	might get lost (downstream of altered splice site)
112	112	DISULFID	By similarity.	might get lost (downstream of altered splice site)
248	248	DISULFID	By similarity.	might get lost (downstream of altered splice site)
261	261	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

658 / 658

chromosome

strand

-1

last intron/exon boundary

1347

theoretical NMD boundary in CDS

639

length of CDS

849

coding sequence (CDS) position

N/A

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

N/A

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

24855

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

17743020

original gDNA sequence snippet

CCTTGTTACCACCGCTCTGACAATGGGCAGGGAAATTTCGG

altered gDNA sequence snippet

CCTTGTTACCACCGCTCTGATAATGGGCAGGGAAATTTCGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MRLRAQVRLL ETRVKQQQVK IKQLLQENEV QFLDKGDENT VIDLGSKRQY ADCSEIFNDG
YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK
HGEYWLGNKN LHFLTTQEDY TLKIDLADFE KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT
AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD HDNYEGNCAE EDQSGWWFNR CHSANLNGVY
YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM KIRPNDFIPN VI*

mutated AA sequence

N/A

speed

0.58 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