RGD:26914707 Rat Genome Database

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Variant: RGD:26914707 -  Homo sapiens

RGD ID: 26914707
RS ID: rs1456533664
ClinVar ID: CV824738
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105373608  PROC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 128,183,720
GRCh38 2 127,426,144
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_599t1:c.595C>T
NM_001375608.1:c.538C>T
NM_001375609.1:c.571C>T
NM_001375610.1:c.589C>T
More... 		10/30/2020 nonsense pathogenic none provided; PROC DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PROC
Accession:NM_001375602
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPSSALTASTQGQPFHSASTWGCRQSSSGGRHCPELRSPPQTGASASRMWQLTSLLLFVATWGISGT
PAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEH
PCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAV
KFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESK
KLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLV
TGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGL
VSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_001375609
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPYSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVD
GDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKL
GDDLLQCHPAVKFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWV
LTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAER
ELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVA
SFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_001375613
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL
AFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRC
SCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGA
VLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICL
PDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEG
DSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:XM_024453003
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPSSALTASTQGQPFHSASTWGCRQSSSGGRHCPELRSPPQTGASASRMWQLTSLLLFVATWGISGT
PAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEH
PCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQRGEGERWMLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNG
GCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPW
QVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHL
AQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENM
LCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_001375611
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL
AFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRC
SCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGA
VLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICL
PDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEG
DSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_001375605
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL
AFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQRGEGERWMLAGGGAGLGPGWGRGTSTSC
PRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLK*DTEDQED
QVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVF
VHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIP
VVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIH
GHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_000312
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL
AFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRC
SCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGA
VLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICL
PDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEG
DSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:XM_017004505
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYD
LRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSRE
KEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLL
HNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_001375607
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPCRAAAGVGTARSSEVLLRQVPVPPECGSSQASCCSWPPGEFPAHQLLLVLRIRKRANSFLEELRH
SSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQ
RGEGERWMLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPA
VKFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDES
KKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETL
VTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVG
LVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_001375610
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAF
WSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSC
APGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVL
IHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPD
SGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDS
GGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:XM_047445118
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGR
PWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRL
GEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYH
SSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEG
CGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_001375603
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPCASASRMWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLEREC
IEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQRGEGERW
MLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGR
PWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRL
GEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYH
SSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEG
CGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_001375604
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPCASASRMWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLEREC
IEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLN
CSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTR
RGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDND
IALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSN
MVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSW
AP*

Gene Symbol:PROC
Accession:XM_047445117
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPCESPSRQTGASASRMWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELR
HSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFC
QRGEGERWMLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHP
AVKFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDE
SKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQET
LVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLV
GLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:XM_024453002
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGR
PWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRL
GEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYH
SSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEG
CGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_001375608
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL
AFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREEVGWRRCSCAPGYKLGDDLLQCHPAV
KFPCGRPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESK
KLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLV
TGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGL
VSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:PROC
Accession:NM_001375606
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPCASASRMWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLEREC
IEEICDFEEAKEIFQNVDDTLAFWSKHVGECVLDPRLDYRRPRPSGSLAADPLPRLVSQTVTSAWSCPWSTRAPACAAGT
ARASTASAASAATAAAAGRAASASAVRGREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCG
RPWKRMEKKRSHLK*DTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVR
LGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGY
HSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGE
GCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:LOC105373608
Accession:XR_007087228
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:7894031   PMID:17152060   PMID:21621249   PMID:24028705   PMID:25533856   PMID:25648792   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001040855 CLINVAR
  RCV001200135 CLINVAR
dbSNP (RS) rs1456533664 CLINVAR
MedGen C2674321 CLINVAR
  C3661900 CLINVAR
NCBI Gene PROC CLINVAR
OMIM 176860 CLINVAR
  612283 CLINVAR