RGD:10050770 Rat Genome Database

Variant: RGD:10050770 - Homo sapiens

RGD ID:

10050770

RS ID:

rs180729424

ClinVar ID:

CV192422

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RP1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	55,534,041
GRCh38	8	54,621,481

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000008.11:g.54621481T>G NC_000008.10:g.55534041T>G NP_006260.1:p.Leu172Arg P56715:p.Leu172Arg More...	09/17/2021	missense variant	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	none provided; Tapetoretinal degeneration

Disease Annotations Click to see Annotation Detail View

fundus dystrophy (IAGP)

retinitis pigmentosa (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Retinal dystrophy (IAGP)

Rod-cone dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RP1
Accession:	XM_047422069
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDNLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLRSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSASRYHVYTFPGKLFYDDWRKHDTSEINCPLFIFSGQ KLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALD NGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATS LCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLE STKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTA KEIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIR IGHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQADGDVVCELPVVKGGQAIFPLVRYQVDVYTGQLKHAETES EVFLCLFGERGDSGLRQLYKSNMQVKFQRGQIDKFQVAAVSLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFT CQRWLPFMSQGIIHSEIELYLQEMQINHQPKIQEEANDGDWKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKH QLFNPNTADIFKINLKDIGEIYKIRIGHDNTGKNPRWYLEEVRLENIATYELFCLPVDSWIAENENDGDLWKEIPIMGPK KAPLPVVLYEIRIYTGTMTGAETESNVFINLIGTRGDSGKRRLHQSKNNEIKFQRGQVDIFSIKAVSLGKLKKVLISHDG TGPGNGWFLGSIVVKSEDEDSSEEVLFLCNRWLDEYQDDGKTQRELLAESSPSAVGETGSTIS*

Gene Symbol:	RP1
Accession:	NM_006269
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	172

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDNLSRKVPLPFGV RNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPPRSLVVFR NGDPKTRRAVLRSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYDIQKYLLP ARLPGISQRVYPKGNAKSESRKISTHMSSSSRSQIYSVSSEKTHNNDCYLDYSFVPEKYLALEKNDSQNLPIYPSEDDIE KSIIFNQDGTMTVEMKVRFRIKEEETIKWTTTVSKTGPSNNDEKSEMSFPGRTESRSSGLKLAACSFSADVSPMERSSNQ EGSLAEEINIQMTDQVAETCSSASWENATVDTDIIQGTQDQAKHRFYRPPTPGLRRVRQKKSVIGSVTLVSETEVQEKMI GQFSYSEERESGENKSEYHMFTHSCSKMSSVSNKPVLVQINNNDQMEESSLERKKENSLLKSSAISAGVIEITSQKMLEM SHNNGLPSTISNNSIVEEDVVDCVVLDNKTGIKNFKTYGNTNDRFSPISADATHFSSNNSGTDKNISEAPASEASSTVTA RIDRLINEFAQCGLTKLPKNEKKILSSVASKKKKKSRQQAINSRYQDGQLATKGILNKNERINTKGRITKEMIVQDSDSP LKGGILCEEDLQKSDTVIESNTFCSKSNLNSTISKNFHRNKLNTTQNSKVQGLLTKRKSRSLNKISLGAPKKREIGQRDK VFPHNESKYCKSTFENKSLFHVFNILEQKPKDFYAPQSQAEVASGYLRGMAKKSLVSKVTDSHITLKSQKKRKGDKVKAS AILSKQHATTRANSLASLKKPDFPEAIAHHSIQNYIQSWLQNINPYPTLKPIKSAPVCRNETSVVNCSNNSFSGNDPHTN SGKISNFVMESNKHITKIAGLTGDNLCKEGDKSFIANDTGEEDLHETQVGSLNDAYLVPLHEHCTLSQSAINDHNTKSHI AAEKSGPEKKLVYQEINLARKRQSVEAAIQVDPIEEETPKDLLPVLMLHQLQASVPGIHKTQNGVVQMPGSLAGVPFHSA ICNSSTNLLLAWLLVLNLKGSMNSFCQVDAHKATNKSSETLALLEILKHIAITEEADDLKAAVANLVESTTSHFGLSEKE QDMVPIDLSANCSTVNIQSVPKCSENERTQGISSLDGGCSASEACAPEVCVLEVTCSPCEMCTVNKAYSPKETCNPSDTF FPSDGYGVDQTSMNKACFLGEVCSLTDTVFSDKACAQKENHTYEGACPIDETYVPVNVCNTIDFLNSKENTYTDNLDSTE ELERGDDIQKDLNILTDPEYKNGFNTLVSHQNVSNLSSCGLCLSEKEAELDKKHSSLDDFENCSLRKFQDENAYTSFDME EPRTSEEPGSITNSMTSSERNISELESFEELENHDTDIFNTVVNGGEQATEELIQEEVEASKTLELIDISSKNIMEEKRM NGIIYEIISKRLATPPSLDFCYDSKQNSEKETNEGETKMVKMMVKTMETGSYSESSPDLKKCIKSPVTSDWSDYRPDSDS EQPYKTSSDDPNDSGELTQEKEYNIGFVKRAIEKLYGKADIIKPSFFPGSTRKSQVCPYNSVEFQCSRKASLYDSEGQSF GSSEQVSSSSSMLQEFQEERQDKCDVSAVRDNYCRGDIVEPGTKQNDDSRILTDIEEGVLIDKGKWLLKENHLLRMSSEN PGMCGNADTTSVDTLLDNNSSEVPYSHFGNLAPGPTMDELSSSELEELTQPLELKCNYFNMPHGSDSEPFHEDLLDVRNE TCAKERIANHHTEEKGSHQSERVCTSVTHSFISAGNKVYPVSDDAIKNQPLPGSNMIHGTLQEADSLDKLYALCGQHCPI LTVIIQPMNEEDRGFAYRKESDIENFLGFYLWMKIHPYLLQTDKNVFREENNKASMRQNLIDNAIGDIFDQFYFSNTFDL MGKRRKQKRINFLGLEEEGNLKKFQPDLKERFCMNFLHTSLLVVGNVDSNTQDLSGQTNEIFKAVDENNNLLNNRFQGSR TNLNQVVRENINCHYFFEMLGQACLLDICQVETSLNISNRNILELCMFEGENLFIWEEEDILNLTDLESSREQEDL*

Gene Symbol:	RP1
Accession:	NM_001375654
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	172

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDNLSRKVPLPFGV RNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPPRSLVVFR NGDPKTRRAVLRSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYDIQKYLLP ARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHEDIFTITV GDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTIYEVNVAT GELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFLDDVVIKD PTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSARQKLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDG TVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALDNGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVF DRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATSLCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESV KNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLESTKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRE NPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTAKEIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGD KGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIRIGHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQ ADGDVVCELPVVKGGQAIFPLVRYQVDVYTGQLKHAETESEVFLCLFGERGDSGLRQLYKSNMQVKFQRGQIDKFQVAAV SLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFTCQRWLPFMSQGIIHSEIELYLQEMQINHQPKIQEEANDGD WKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKHQLFNPNTADIFKINLKDIGEIYKIRIGHDNTGKNPRWYLE EVRLENIATYELFCLPVDSWIAENENDGDLWKEIPIMGPKKAPLPVVLYEIRIYTGTMTGAETESNVFINLIGTRGDSGK RRLHQSKNNEIKFQRGQVDIFSIKAVSLGKLKKVLISHDGTGPGNGWFLGSIVVKSEDEDSSEEVLFLCNRWLDEYQDDG KTQRELLAESSPSAVGETGSTIS*

Gene Symbol:	RP1
Accession:	XM_047422070
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDNLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLRSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSASRYHVYTFPGKLFYDDWRKHDTSEINCPLFIFSGQ KLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALD NGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATS LCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLE STKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTA KEIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIR IGHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQADGDVVCELPVVKGGQAIFPLRYQVDVYTGQLKHAETESE VFLCLFGERGDSGLRQLYKSNMQVKFQRGQIDKFQVAAVSLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFTC QRWLPFMSQGIIHSEIELYLQEMQINHQPKIQEEANDGDWKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKHQ LFNPNTADIFKINLKDIGEIYKIRIGHDNTGKNPRWYLEEVRLENIATYELFCLPVDSWIAENENDGDLWKEIPIMGPKK APLPVVLYEIRIYTGTMTGAETESNVFINLIGTRGDSGKRRLHQSKNNEIKFQRGQVDIFSIKAVSLGKLKKVLISHDGT GPGNGWFLGSIVVKSEDEDSSEEVLFLCNRWLDEYQDDGKTQRELLAESSPSAVGETGSTIS*

Gene Symbol:	RP1
Accession:	XM_047422071
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDNLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLRSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSASRYHVYTFPGKLFYDDWRKHDTSEINCPLFIFSGQ KLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALD NGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATS LCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLE STKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTA KIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIRI GHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQADGDVVCELPVVKGGQAIFPLVRYQVDVYTGQLKHAETESE VFLCLFGERGDSGLRQLYKSNMQVKFQRGQIDKFQVAAVSLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFTC QRWLPFMSQGIIHSEIELYLQEMQINHQPKIQEEANDGDWKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKHQ LFNPNTADIFKINLKDIGEIYKIRIGHDNTGKNPRWYLEEVRLENIATYELFCLPVDSWIAENENDGDLWKEIPIMGPKK APLPVVLYEIRIYTGTMTGAETESNVFINLIGTRGDSGKRRLHQSKNNEIKFQRGQVDIFSIKAVSLGKLKKVLISHDGT GPGNGWFLGSIVVKSEDEDSSEEVLFLCNRWLDEYQDDGKTQRELLAESSPSAVGETGSTIS*

Gene Symbol:	RP1
Accession:	XM_047422072
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDNLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLRSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSARQKLELKRKETWTAESWKFTKGNTLQFYNKLTGGF VRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALDNGIVTGMVSGEATTELRVLYQPNRCALLESALV PGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATSLCQALCLQPDGSCTGVGSQSEKSYWKVHKISSG ICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLESTKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQ VIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTAKEIRHFQSSETLLSEDEWKVLVLTGNTGTQANV TLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIRIGHDGTSEQPEWNLQRVTMQHMKSKKILDFAAN VWLSRIQADGDVVCELPVVKGGQAIFPLVRYQVDVYTGQLKHAETESEVFLCLFGERGDSGLRQLYKSNMQVKFQRGQID KFQVAAVSLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFTCQRWLPFMSQGIIHSEIELYLQEMQINHQPKIQ EEANDGDWKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKHQLFNPNTADIFKINLKDIGEIYKIRIGHDNTGK NPRWYLEEVRLENIATYELFCLPVDSWIAENENDGDLWKEIPIMGPKKAPLPVVLYEIRIYTGTMTGAETESNVFINLIG TRGDSGKRRLHQSKNNEIKFQRGQVDIFSIKAVSLGKLKKVLISHDGTGPGNGWFLGSIVVKSEDEDSSEEVLFLCNRWL DEYQDDGKTQRELLAESSPSAVGETGSTIS*

Gene Symbol:	RP1
Accession:	XM_047422074
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDNLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLRSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSASRYHVYTFPGKLFYDDWRKHDTSEINCPLFIFSGQ KLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALD NGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATS LCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLE STKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTA KEIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIR IGHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQADGDVVCELPVVKGGQAIFPS*

Gene Symbol:	RP1
Accession:	XM_047422073
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDNLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLRSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSASRYHVYTFPGKLFYDDWRKHDTSEINCPLFIFSGQ KLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALD NGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATS LCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLE STKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTA KEIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIR IGHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQADGDVVCELPVVKGGQAIFPLVRYQVDVYTGQLKHAETES EVFLCLFGERGDSGLRQLYKSNMQVKFQRGQIDKFQVAAVSLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFT CQRWLPFMSQGIIHSEIELYLQEMQINHQPKIQEEANDGDWKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKH QLFNPNTADIFKVPWKANECCW*

Gene Symbol:	RP1
Accession:	XM_017014158
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:22334370	PMID:28041643	PMID:28492532	PMID:29068140	PMID:32565670

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000175822	CLINVAR
	RCV000302193	CLINVAR
	RCV000504802	CLINVAR
dbSNP (RS)	rs180729424	CLINVAR
MedGen	C0035334	CLINVAR
	C0854723	CLINVAR
	C3661900	CLINVAR
NCBI Gene	RP1	CLINVAR
OMIM	268000	CLINVAR
	603937	CLINVAR
SNOMED CT	28835009	CLINVAR
	314407005	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:10050770 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:10050770 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar