SERPING1 R494* [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9650555
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum lumen
Synonyms
SERPING1 R494TER, C1-In R494TER, plasma protease C1 inhibitor, C1Inh R494*
Icon
SERPING1 R494* [endoplasmic reticulum lumen] icon
SERPING1 R494* [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
18758157 Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema

Martinez-Saguer, I, Bork, K, Emmert, G, Rusicke, E, Oldenburg, J, Aygören-Pürsün, E, Kreuz, W, Gösswein, T, Müller, CR, Kocot, A

Cytogenet. Genome Res. 2008
29753808 Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency

Csuka, D, Maurer, M, Zamanakou, M, Loules, G, López-Trascasa, M, Moldovan, D, Staevska, M, Obtulowicz, K, López-Lera, A, Valerieva, A, Magerl, M, Porebski, G, Psarros, F, Parsopoulou, F, Vatsiou, S, Germenis, AE, Speletas, M, Farkas, H

Gene 2018
8755917 Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema

Meo, T, Tosi, M, Verpy, E, Misiano, G, Biasotto, M, Brai, M

Am. J. Hum. Genet. 1996
External Reference Information
External Reference
UniProt:P05155 SERPING1
Gene Names
SERPING1, C1IN, C1NH
Chain
signal peptide:1-22, chain:23-500
Reference Genes
BioGPS Gene:710 SERPING1
COSMIC (genes):SERPING1 SERPING1
CTD Gene:710 SERPING1
dbSNP Gene:710 SERPING1
ENSEMBL:ENSG00000149131 SERPING1
ENSEMBL_homo_sapiens_GENE:ENSG00000149131.17 SERPING1
HGNC:1228 SERPING1
KEGG Gene (Homo sapiens):710 SERPING1
Monarch:710 SERPING1
NCBI Gene:710 SERPING1
OMIM:606860 SERPING1
UCSC:P05155 SERPING1
Reference Transcript
Other Identifiers
11715368_a_at
11751845_x_at
16724861
200986_PM_at
200986_at
3331358
3331359
3331360
3331362
3331363
3331364
3331365
3331366
3331369
3331372
3331373
3331376
3331379
3331380
39775_at
710
7940028
A_14_P105872
A_23_P139123
A_33_P3413987
A_33_P3413989
GE61906
GO:0001869
GO:0002376
GO:0003013
GO:0004867
GO:0005515
GO:0005576
GO:0005615
GO:0005783
GO:0005788
GO:0006958
GO:0007596
GO:0007599
GO:0008015
GO:0030312
GO:0030414
GO:0031012
GO:0031093
GO:0031410
GO:0042060
GO:0042730
GO:0043226
GO:0045087
GO:0062023
GO:0070062
GO:0072562
GO:0098542
GO:0098772
HMNXSV003008886
ILMN_1670305
ILMN_1711272
M13690_s_at
PH_hs_0018714
TC11000467.hg
TC11002677.hg
g4557378_3p_at
Participates
as a candidate of
Other forms of this molecule
SERPING1 [platelet alpha granule lumen]
SERPING1 L177P [endoplasmic reticulum lumen]
SERPING1 R400C [endoplasmic reticulum lumen]
SERPING1 V288E [endoplasmic reticulum lumen]
SERPING1 G184_P228del [endoplasmic reticulum lumen]
SERPING1 F236S [endoplasmic reticulum lumen]
SERPING1 T189N [endoplasmic reticulum lumen]
SERPING1 P476L [endoplasmic reticulum lumen]
SERPING1 G184R [endoplasmic reticulum lumen]
SERPING1 P489R [endoplasmic reticulum lumen]
SERPING1 S170P [endoplasmic reticulum lumen]
SERPING1 S280_P282del [endoplasmic reticulum lumen]
SERPING1 V473M [endoplasmic reticulum lumen]
SERPING1 N291H [endoplasmic reticulum lumen]
SERPING1 Q484* [endoplasmic reticulum lumen]
SERPING1 A2_M53del [endoplasmic reticulum lumen]
SERPING1 W482* [endoplasmic reticulum lumen]
SERPING1 Q338* [endoplasmic reticulum lumen]
SERPING1 I196N [endoplasmic reticulum lumen]
SERPING1 S36Ffs*21 [endoplasmic reticulum lumen]
SERPING1 G184E [endoplasmic reticulum lumen]
SERPING1 L481P [endoplasmic reticulum lumen]
SERPING1 G345R [endoplasmic reticulum lumen]
SERPING1 L481R [endoplasmic reticulum lumen]
SERPING1 S318* [endoplasmic reticulum lumen]
SERPING1 G493E [endoplasmic reticulum lumen]
SERPING1 F225* [endoplasmic reticulum lumen]
SERPING1 P498R [endoplasmic reticulum lumen]
SERPING1 Y496* [endoplasmic reticulum lumen]
SERPING1 Q474* [endoplasmic reticulum lumen]
SERPING1 R466S [extracellular region]
SERPING1 I462S [extracellular region]
SERPING1 P498S [extracellular region]
SERPING1 A456E [extracellular region]
SERPING1 R466C [extracellular region]
SERPING1 A458T [extracellular region]
SERPING1 R466L [extracellular region]
SERPING1 R466H [extracellular region]
SERPING1 [extracellular region]
SERPING1 [endoplasmic reticulum lumen]
SERPING1 T467P [extracellular region]
SERPING1 G493R [extracellular region]
SERPING1 L273del [extracellular region]
SERPING1 D84_T138del [extracellular region]
SERPING1 A458V [extracellular region]
Modified Residues
Name
Nonsense mutation at L-arginine 494
Coordinate
494
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
C1 inhibitor deficiency DOID:0060002 Quincke edema
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
ClinVar
PDB
Interactors (8)
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