mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NAMPT
Gene summary
Basic gene Info.Gene symbolNAMPT
Gene namenicotinamide phosphoribosyltransferase
Synonyms1110035O14Rik|PBEF|PBEF1|VF|VISFATIN
CytomapUCSC genome browser: 7q22.3
Type of geneprotein-coding
RefGenesNM_005746.2,
NM_182790.1,
DescriptionNAmPRTasepre-B cell-enhancing factorpre-B-cell colony enhancing factor 1pre-B-cell colony-enhancing factor 1
Modification date20141222
dbXrefs MIM : 608764
HGNC : HGNC
Ensembl : ENSG00000105835
HPRD : 09938
Vega : OTTHUMG00000140388
ProteinUniProt: P43490
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NAMPT
BioGPS: 10135
PathwayNCI Pathway Interaction Database: NAMPT
KEGG: NAMPT
REACTOME: NAMPT
Pathway Commons: NAMPT
ContextiHOP: NAMPT
ligand binding site mutation search in PubMed: NAMPT
UCL Cancer Institute: NAMPT
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0008286insulin receptor signaling pathway17983582
GO:0045944positive regulation of transcription from RNA polymerase II promoter23001182
GO:0051770positive regulation of nitric-oxide synthase biosynthetic process19727662
GO:0060612adipose tissue development17983582


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Ligand binding site mutations for NAMPT
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G185D184NBLCA1
K415V413LBRCA1
S275S275YLUAD1
K423P421RLUSC1
K423K423RLUSC1
D354V356LSTAD1
H191H191NUCEC1
D354G355EUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for NAMPT
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
H191H191N-1.1441045
D354V356L-1.0929628
K415V413L-0.92371312
K423P421R-0.82375516
S275S275Y-0.81019455
D354G355E-0.58817193
K423K423R-0.3576321
G185D184N-0.26911651
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for NAMPT from PDB

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Differential gene expression and gene-gene network for NAMPT
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of NAMPT and the right PPI network was created from samples without mutations in the LBS of NAMPT. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for NAMPT
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0009319Colitis1Biomarker
umls:C0009404Colorectal Neoplasms1Biomarker
umls:C0162820Dermatitis, Allergic Contact1Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for NAMPT
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
InvestigationalDB05217GMX1777Small molecule
ExperimentalDB07656N-[4-(1-BENZOYLPIPERIDIN-4-YL)BUTYL]-3-PYRIDIN-3-YLPROPANAMIDESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NAMPT go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NMNNICOTINAMIDE MONONUCLEOTIDE2gvgAD354
NMNNICOTINAMIDE MONONUCLEOTIDE2gvgCD354
NMNNICOTINAMIDE MONONUCLEOTIDE2gvgDD354
NMNNICOTINAMIDE MONONUCLEOTIDE2gvgED354
PRP5-O-PHOSPHONO-ALPHA-D-RIBOFURANOSYL DIPHOSPHATE3dkjBD354
DGBN-[4-(1-BENZOYLPIPERIDIN-4-YL)BUTYL]-3-PYRIDIN-3-YLPROPANAMIDE4o1bAG185 H191 S275
DGBN-[4-(1-BENZOYLPIPERIDIN-4-YL)BUTYL]-3-PYRIDIN-3-YLPROPANAMIDE4o1bBG185 H191 S275
20J7-CHLORO-3-METHYL-2H-1,2,4-BENZOTHIADIAZINE 1,1-DIOXIDE4lv9AH191
20J7-CHLORO-3-METHYL-2H-1,2,4-BENZOTHIADIAZINE 1,1-DIOXIDE4lv9BH191
1EBN-(4-NITROPHENYL)CYCLOPROPANECARBOXAMIDE4lvdBH191
1EBN-(4-NITROPHENYL)CYCLOPROPANECARBOXAMIDE4lvdAH191
DGBN-[4-(1-BENZOYLPIPERIDIN-4-YL)BUTYL]-3-PYRIDIN-3-YLPROPANAMIDE2gvjAH191 S275
1LS1-[4-(PIPERIDIN-1-YLSULFONYL)PHENYL]-3-(PYRIDIN-3- YLMETHYL)THIOUREA4jr5AH191 S275
1LS1-[4-(PIPERIDIN-1-YLSULFONYL)PHENYL]-3-(PYRIDIN-3- YLMETHYL)THIOUREA4jr5BH191 S275
1QRN-[4-(PIPERIDIN-1-YLSULFONYL)BENZYL]-1H-PYRROLO[3,2- C]PYRIDINE-2-CARBOXAMIDE4kfnAH191 S275
1QRN-[4-(PIPERIDIN-1-YLSULFONYL)BENZYL]-1H-PYRROLO[3,2- C]PYRIDINE-2-CARBOXAMIDE4kfnBH191 S275
1QSN-{4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}IMIDAZO[1,2- A]PYRIDINE-6-CARBOXAMIDE4kfoAH191 S275
1QSN-{4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}IMIDAZO[1,2- A]PYRIDINE-6-CARBOXAMIDE4kfoBH191 S275
1LJ1-[(6-AMINOPYRIDIN-3-YL)METHYL]-3-[4-(PHENYLSULFONYL) PHENYL]UREA4jnmAH191 S275
1LJ1-[(6-AMINOPYRIDIN-3-YL)METHYL]-3-[4-(PHENYLSULFONYL) PHENYL]UREA4jnmBH191 S275
1R7N-(4-{[1-(TETRAHYDRO-2H-PYRAN-4-YL)PIPERIDIN-4- YL]SULFONYL}BENZYL)-2H-PYRROLO[3,4-C]PYRIDINE-2- CARBOXAMIDE4kfpAH191 S275
1R7N-(4-{[1-(TETRAHYDRO-2H-PYRAN-4-YL)PIPERIDIN-4- YL]SULFONYL}BENZYL)-2H-PYRROLO[3,4-C]PYRIDINE-2- CARBOXAMIDE4kfpBH191 S275
20MN-(4-{[4-(PYRROLIDIN-1-YL)PIPERIDIN-1- YL]SULFONYL}BENZYL)-2H-PYRIDO[4,3-E][1,2,4]THIADIAZIN- 3-AMINE 1,1-DIOXIDE4lvaAH191 S275
20MN-(4-{[4-(PYRROLIDIN-1-YL)PIPERIDIN-1- YL]SULFONYL}BENZYL)-2H-PYRIDO[4,3-E][1,2,4]THIADIAZIN- 3-AMINE 1,1-DIOXIDE4lvaBH191 S275
20NN-[4-(ACETYLAMINO)PHENYL]CYCLOPROPANECARBOXAMIDE4lvbAH191 S275
20NN-[4-(ACETYLAMINO)PHENYL]CYCLOPROPANECARBOXAMIDE4lvbBH191 S275
20P(1S,2S)-2-PHENYL-N-(PYRIDIN-4-YL) CYCLOPROPANECARBOXAMIDE4lvfAH191 S275
20P(1S,2S)-2-PHENYL-N-(PYRIDIN-4-YL) CYCLOPROPANECARBOXAMIDE4lvfBH191 S275
20O(1S,2S)-N-[4-(PHENYLSULFONYL)PHENYL]-2-(PYRIDIN-3-YL) CYCLOPROPANECARBOXAMIDE4lvgAH191 S275
20O(1S,2S)-N-[4-(PHENYLSULFONYL)PHENYL]-2-(PYRIDIN-3-YL) CYCLOPROPANECARBOXAMIDE4lvgBH191 S275
20RN-[4-(PHENYLSULFONYL)BENZYL]-2H-PYRAZOLO[3,4- B]PYRIDINE-5-CARBOXAMIDE4m6pAH191 S275
20RN-[4-(PHENYLSULFONYL)BENZYL]-2H-PYRAZOLO[3,4- B]PYRIDINE-5-CARBOXAMIDE4m6pBH191 S275
20T1-(5-O-PHOSPHONO-BETA-D-RIBOFURANOSYL)-N-(4-{[3- (TRIFLUOROMETHYL)PHENYL]SULFONYL}BENZYL)-1H- PYRAZOLO[3,4-B]PYRIDINE-5-CARBOXAMIDE4m6qAH191 S275
20T1-(5-O-PHOSPHONO-BETA-D-RIBOFURANOSYL)-N-(4-{[3- (TRIFLUOROMETHYL)PHENYL]SULFONYL}BENZYL)-1H- PYRAZOLO[3,4-B]PYRIDINE-5-CARBOXAMIDE4m6qBH191 S275
LTS2-CYANO-1-PYRIDIN-4-YL-3-(4-{[3-(TRIFLUOROMETHOXY) PHENYL]SULFONYL}BENZYL)GUANIDINE4ltsAH191 S275
LTS2-CYANO-1-PYRIDIN-4-YL-3-(4-{[3-(TRIFLUOROMETHOXY) PHENYL]SULFONYL}BENZYL)GUANIDINE4ltsBH191 S275
LWWN-(4-(PHENYLSULFONYL)BENZYL)-1H-PYRROLO[3,2-C]PYRIDINE- 2-CARBOXAMIDE4lwwAH191 S275
LWWN-(4-(PHENYLSULFONYL)BENZYL)-1H-PYRROLO[3,2-C]PYRIDINE- 2-CARBOXAMIDE4lwwBH191 S275
2ZM5-NITRO-1H-BENZIMIDAZOLE4n9cAH191 S275
2ZM5-NITRO-1H-BENZIMIDAZOLE4n9cBH191 S275
2HJ4-({[(4-TERT-BUTYLPHENYL)SULFONYL]AMINO}METHYL)-N- (PYRIDIN-3-YL)BENZAMIDE4n9dAH191 S275
2HJ4-({[(4-TERT-BUTYLPHENYL)SULFONYL]AMINO}METHYL)-N- (PYRIDIN-3-YL)BENZAMIDE4n9dBH191 S275
2HL1-[(1-BENZOYLPIPERIDIN-4-YL)METHYL]-N-(PYRIDIN-3-YL)- 1H-BENZIMIDAZOLE-5-CARBOXAMIDE4n9eAH191 S275
2HL1-[(1-BENZOYLPIPERIDIN-4-YL)METHYL]-N-(PYRIDIN-3-YL)- 1H-BENZIMIDAZOLE-5-CARBOXAMIDE4n9eBH191 S275
1XC6-({4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}CARBAMOYL)- 1-(5-O-PHOSPHONO-BETA-D-RIBOFURANOSYL)IMIDAZO[1,2- A]PYRIDIN-1-IUM4l4lAH191 S275
1XC6-({4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}CARBAMOYL)- 1-(5-O-PHOSPHONO-BETA-D-RIBOFURANOSYL)IMIDAZO[1,2- A]PYRIDIN-1-IUM4l4lBH191 S275
1XDN-{4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}IMIDAZO[1,2- A]PYRIDINE-7-CARBOXAMIDE4l4mAH191 S275
1XDN-{4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}IMIDAZO[1,2- A]PYRIDINE-7-CARBOXAMIDE4l4mBH191 S275
2RMN-{4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}INDOLIZINE-6- CARBOXAMIDE4o0zAH191 S275
2RMN-{4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}INDOLIZINE-6- CARBOXAMIDE4o0zBH191 S275
2QFN-{4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}INDOLIZINE-7- CARBOXAMIDE4o10AH191 S275
2QFN-{4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}INDOLIZINE-7- CARBOXAMIDE4o10BH191 S275
2QG2-[6-(4-CHLOROPHENOXY)HEXYL]-1-CYANO-3-PYRIDIN-4- YLGUANIDINE4o12AH191 S275
2QG2-[6-(4-CHLOROPHENOXY)HEXYL]-1-CYANO-3-PYRIDIN-4- YLGUANIDINE4o12BH191 S275
2P1N-(4-{[3-(TRIFLUOROMETHYL)PHENYL]SULFONYL}BENZYL)-2H- PYRAZOLO[3,4-B]PYRIDINE-5-CARBOXAMIDE4o13AH191 S275
2P1N-(4-{[3-(TRIFLUOROMETHYL)PHENYL]SULFONYL}BENZYL)-2H- PYRAZOLO[3,4-B]PYRIDINE-5-CARBOXAMIDE4o13BH191 S275
2P1N-(4-{[3-(TRIFLUOROMETHYL)PHENYL]SULFONYL}BENZYL)-2H- PYRAZOLO[3,4-B]PYRIDINE-5-CARBOXAMIDE4o15AH191 S275
2P1N-(4-{[3-(TRIFLUOROMETHYL)PHENYL]SULFONYL}BENZYL)-2H- PYRAZOLO[3,4-B]PYRIDINE-5-CARBOXAMIDE4o15BH191 S275
1XC6-({4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}CARBAMOYL)- 1-(5-O-PHOSPHONO-BETA-D-RIBOFURANOSYL)IMIDAZO[1,2- A]PYRIDIN-1-IUM4o16AH191 S275
1QSN-{4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}IMIDAZO[1,2- A]PYRIDINE-6-CARBOXAMIDE4o28AH191 S275
1QSN-{4-[(3,5-DIFLUOROPHENYL)SULFONYL]BENZYL}IMIDAZO[1,2- A]PYRIDINE-6-CARBOXAMIDE4o28BH191 S275
3TQN-(4-{(S)-[1-(2-METHYLPROPYL)PIPERIDIN-4- YL]SULFINYL}BENZYL)FURO[2,3-C]PYRIDINE-2-CARBOXAMIDE4wq6AH191 S275
3TQN-(4-{(S)-[1-(2-METHYLPROPYL)PIPERIDIN-4- YL]SULFINYL}BENZYL)FURO[2,3-C]PYRIDINE-2-CARBOXAMIDE4wq6BH191 S275
BEFTRIFLUOROBERYLLATE(1-)3dhfAK415
BEFTRIFLUOROBERYLLATE(1-)3dhfBK415
BEFTRIFLUOROBERYLLATE(1-)3dklAK415
BEFTRIFLUOROBERYLLATE(1-)3dklBK415
POPDIPHOSPHATE(2-)3dhdAK415 K423
POPDIPHOSPHATE(2-)3dhdBK415 K423
POPDIPHOSPHATE(2-)3dhfAK415 K423
POPDIPHOSPHATE(2-)3dhfBK415 K423
PRP5-O-PHOSPHONO-ALPHA-D-RIBOFURANOSYL DIPHOSPHATE3dklAK415 K423
PRP5-O-PHOSPHONO-ALPHA-D-RIBOFURANOSYL DIPHOSPHATE3dklBK415 K423
PRP5-O-PHOSPHONO-ALPHA-D-RIBOFURANOSYL DIPHOSPHATE3dkjAK423
PRP5-O-PHOSPHONO-ALPHA-D-RIBOFURANOSYL DIPHOSPHATE3dkjBK423
POPDIPHOSPHATE(2-)4m6qBK423
DGBN-[4-(1-BENZOYLPIPERIDIN-4-YL)BUTYL]-3-PYRIDIN-3-YLPROPANAMIDE2gvjBS275
20J7-CHLORO-3-METHYL-2H-1,2,4-BENZOTHIADIAZINE 1,1-DIOXIDE4lv9AS275
2HH1-METHYL-N-(PYRIDIN-3-YL)-1H-PYRAZOLE-5-CARBOXAMIDE4n9bAS275
2HH1-METHYL-N-(PYRIDIN-3-YL)-1H-PYRAZOLE-5-CARBOXAMIDE4n9bBS275
DGBN-[4-(1-BENZOYLPIPERIDIN-4-YL)BUTYL]-3-PYRIDIN-3-YLPROPANAMIDE4o1dAS275
DGBN-[4-(1-BENZOYLPIPERIDIN-4-YL)BUTYL]-3-PYRIDIN-3-YLPROPANAMIDE4o1dBS275


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Conservation information for LBS of NAMPT
Multiple alignments for P43490 in multiple species
LBSAA sequence# speciesSpecies
A244GYSVPAAEHST3Homo sapiens, Mus musculus, Rattus norvegicus
A245YSVPAAEHSTI3Homo sapiens, Mus musculus, Rattus norvegicus
A379SIENVSFGSGG2Mus musculus, Rattus norvegicus
A379SIENIAFGSGG1Homo sapiens
D16ILLATDSYKVT3Homo sapiens, Mus musculus, Rattus norvegicus
D219NFKGTDTVAGI2Mus musculus, Rattus norvegicus
D219NFKGTDTVAGL1Homo sapiens
D313LIIRPDSGNPL3Homo sapiens, Mus musculus, Rattus norvegicus
D354RVIQGDGVDIN3Homo sapiens, Mus musculus, Rattus norvegicus
E246SVPAAEHSTIT3Homo sapiens, Mus musculus, Rattus norvegicus
E376KKWSIENVSFG2Mus musculus, Rattus norvegicus
E376KMWSIENIAFG1Homo sapiens
F193YKLHDFGYRGV3Homo sapiens, Mus musculus, Rattus norvegicus
G185SGNLDGLEYKL3Homo sapiens, Mus musculus, Rattus norvegicus
G217LVNFKGTDTVA3Homo sapiens, Mus musculus, Rattus norvegicus
G353LRVIQGDGVDI3Homo sapiens, Mus musculus, Rattus norvegicus
G383VSFGSGGALLQ2Mus musculus, Rattus norvegicus
G383IAFGSGGGLLQ1Homo sapiens
G384SFGSGGALLQK2Mus musculus, Rattus norvegicus
G384AFGSGGGLLQK1Homo sapiens
H191LEYKLHDFGYR3Homo sapiens, Mus musculus, Rattus norvegicus
H247VPAAEHSTITA3Homo sapiens, Mus musculus, Rattus norvegicus
I309TEAPLIIRPDS2Mus musculus, Rattus norvegicus
I309TQAPLIIRPDS1Homo sapiens
I351PYLRVIQGDGV3Homo sapiens, Mus musculus, Rattus norvegicus
I378WSIENVSFGSG2Mus musculus, Rattus norvegicus
I378WSIENIAFGSG1Homo sapiens
K189DGLEYKLHDFG3Homo sapiens, Mus musculus, Rattus norvegicus
K400LNCSFKCSYVV3Homo sapiens, Mus musculus, Rattus norvegicus
K415GVNVFKDPVAD2Mus musculus, Rattus norvegicus
K415GINVFKDPVAD1Homo sapiens
K423VADPNKRSKKG3Homo sapiens, Mus musculus, Rattus norvegicus
N377KWSIENVSFGS2Mus musculus, Rattus norvegicus
N377MWSIENIAFGS1Homo sapiens
P273QFSSVPVSVVS3Homo sapiens, Mus musculus, Rattus norvegicus
P307RSTEAPLIIRP2Mus musculus, Rattus norvegicus
P307RSTQAPLIIRP1Homo sapiens
Q305VSRSTEAPLII2Mus musculus, Rattus norvegicus
Q305VSRSTQAPLII1Homo sapiens
R196HDFGYRGVSSQ3Homo sapiens, Mus musculus, Rattus norvegicus
R311APLIIRPDSGN3Homo sapiens, Mus musculus, Rattus norvegicus
R349LPPYLRVIQGD3Homo sapiens, Mus musculus, Rattus norvegicus
R392LQKLTRDLLNC3Homo sapiens, Mus musculus, Rattus norvegicus
S241PVPGYSVPAAE3Homo sapiens, Mus musculus, Rattus norvegicus
S275SSVPVSVVSDS3Homo sapiens, Mus musculus, Rattus norvegicus
S398DLLNCSFKCSY3Homo sapiens, Mus musculus, Rattus norvegicus
T304IVSRSTEAPLI2Mus musculus, Rattus norvegicus
T304IVSRSTQAPLI1Homo sapiens
V242VPGYSVPAAEH3Homo sapiens, Mus musculus, Rattus norvegicus
V350PPYLRVIQGDG3Homo sapiens, Mus musculus, Rattus norvegicus
Y18LATDSYKVTHY3Homo sapiens, Mus musculus, Rattus norvegicus
Y188LDGLEYKLHDF3Homo sapiens, Mus musculus, Rattus norvegicus
Y240DPVPGYSVPAA3Homo sapiens, Mus musculus, Rattus norvegicus


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