UniProtKB - Q14498 (RBM39_HUMAN)
Protein
RNA-binding protein 39
Gene
RBM39
Organism
Homo sapiens (Human)
Status
Functioni
RNA-binding protein that acts as a pre-mRNA splicing factor (PubMed:15694343, PubMed:31271494, PubMed:28437394, PubMed:28302793, PubMed:24795046). Acts by promoting exon inclusion via regulation of exon cassette splicing (PubMed:31271494). Also acts as a transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1, independently of the pre-mRNA splicing factor activity (By similarity).By similarity5 Publications
Miscellaneous
Antibodies against RBM39 are present in sera from a patient with hepatocellular carcinoma who developed several autoantibodies.1 Publication
GO - Molecular functioni
- RNA binding Source: UniProtKB
- RS domain binding Source: Ensembl
GO - Biological processi
- mRNA processing Source: UniProtKB-KW
- regulation of mRNA splicing, via spliceosome Source: UniProtKB
- RNA processing Source: ProtInc
- RNA splicing Source: UniProtKB-KW
Keywordsi
Molecular function | Activator, RNA-binding |
Biological process | mRNA processing, mRNA splicing, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q14498 |
Names & Taxonomyi
Protein namesi | Recommended name: RNA-binding protein 391 PublicationAlternative name(s): CAPER alpha2 Publications Short name: CAPERalpha2 Publications Hepatocellular carcinoma protein 11 Publication RNA-binding motif protein 39 RNA-binding region-containing protein 2 Splicing factor HCC1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000131051.21 |
HGNCi | HGNC:15923, RBM39 |
MIMi | 604739, gene |
neXtProti | NX_Q14498 |
Subcellular locationi
Nucleus
- Nucleus speckle 1 Publication
Note: Concentrated in nuclear speckles (PubMed:8227358). Colocalizes with the core spliceosomal snRNP proteins (PubMed:8227358).1 Publication
Cytoskeleton
- centriolar satellite Source: HPA
- microtubule cytoskeleton Source: HPA
Nucleus
- nuclear speck Source: HPA
- nucleoplasm Source: HPA
Other locations
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 9584 |
OpenTargetsi | ENSG00000131051 |
PharmGKBi | PA34450 |
Miscellaneous databases
Pharosi | Q14498, Tbio |
Polymorphism and mutation databases
BioMutai | RBM39 |
DMDMi | 28201880 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources1 Publication | |||
ChainiPRO_0000081814 | 2 – 530 | RNA-binding protein 39Add BLAST | 529 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources1 Publication | 1 | |
Modified residuei | 95 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 97 | PhosphoserineCombined sources | 1 | |
Modified residuei | 100 | PhosphoserineCombined sources | 1 | |
Cross-linki | 111 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 117 | PhosphoserineCombined sources | 1 | |
Cross-linki | 119 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 121 | PhosphoserineCombined sources | 1 | |
Modified residuei | 136 | PhosphoserineCombined sources | 1 | |
Modified residuei | 146 | PhosphothreonineCombined sources | 1 | |
Cross-linki | 244 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 334 | PhosphoserineCombined sources | 1 | |
Modified residuei | 337 | PhosphoserineCombined sources | 1 | |
Modified residuei | 341 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Aryl sulfonamide anticancer drugs, such as indisulam (E7070) or E7820, promote ubiquitination and subsequent degradation by the DCX(DCAF15) complex (PubMed:31693891, PubMed:28437394, PubMed:28302793). RBM39 degradation results in splicing defects and death in cancer cell lines (PubMed:31693891, PubMed:28437394, PubMed:28302793). Aryl sulfonamide anticancer drugs change the substrate specificity of DCAF15 by acting as a molecular glue that promotes binding between DCAF15 and weak affinity interactor RBM39 (PubMed:31686031, PubMed:31819272).5 Publications
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q14498 |
jPOSTi | Q14498 |
MassIVEi | Q14498 |
MaxQBi | Q14498 |
PaxDbi | Q14498 |
PeptideAtlasi | Q14498 |
PRIDEi | Q14498 |
ProteomicsDBi | 60005 [Q14498-1] 60006 [Q14498-2] 60007 [Q14498-3] |
PTM databases
iPTMneti | Q14498 |
MetOSitei | Q14498 |
PhosphoSitePlusi | Q14498 |
SwissPalmi | Q14498 |
Expressioni
Tissue specificityi
Widely expressed. Highly expressed in pancreas, skeletal muscle, lung and brain (PubMed:8227358). Expressed at intermediate level in kidney, liver and heart (PubMed:8227358).1 Publication
Gene expression databases
Bgeei | ENSG00000131051, Expressed in intestine and 209 other tissues |
ExpressionAtlasi | Q14498, baseline and differential |
Genevisiblei | Q14498, HS |
Organism-specific databases
HPAi | ENSG00000131051, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ14498
Isoform 2 [Q14498-2]
With | #Exp. | IntAct |
---|---|---|
PCBP1 [Q15365] | 2 | EBI-11032687,EBI-946095 |
Isoform 3 [Q14498-3]
GO - Molecular functioni
- RS domain binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 114952, 225 interactors |
CORUMi | Q14498 |
DIPi | DIP-32928N |
IntActi | Q14498, 99 interactors |
MINTi | Q14498 |
STRINGi | 9606.ENSP00000253363 |
Miscellaneous databases
RNActi | Q14498, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | Q14498 |
SMRi | Q14498 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q14498 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 153 – 230 | RRM 1PROSITE-ProRule annotationAdd BLAST | 78 | |
Domaini | 250 – 328 | RRM 2PROSITE-ProRule annotationAdd BLAST | 79 | |
Domaini | 445 – 508 | RRM 3PROSITE-ProRule annotationAdd BLAST | 64 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 291 – 406 | Interaction with JUNBy similarityAdd BLAST | 116 | |
Regioni | 291 – 355 | Activating domainBy similarityAdd BLAST | 65 | |
Regioni | 355 – 406 | Interaction with ESR1 and ESR2By similarityAdd BLAST | 52 | |
Regioni | 406 – 530 | Interaction with NCOA6By similarityAdd BLAST | 125 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 41 – 90 | Arg/Ser-rich (RS domain)Add BLAST | 50 | |
Compositional biasi | 409 – 416 | Poly-Ala | 8 |
Sequence similaritiesi
Belongs to the splicing factor SR family.Curated
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0147, Eukaryota |
GeneTreei | ENSGT00940000154468 |
InParanoidi | Q14498 |
OMAi | RQARNPE |
OrthoDBi | 873705at2759 |
PhylomeDBi | Q14498 |
TreeFami | TF320448 |
Family and domain databases
Gene3Di | 3.30.70.330, 3 hits |
IDEALi | IID00567 |
InterProi | View protein in InterPro IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR029123, RBM39_linker IPR006509, RBM39_SF IPR000504, RRM_dom IPR003954, RRM_dom_euk |
Pfami | View protein in Pfam PF15519, RBM39linker, 1 hit PF00076, RRM_1, 2 hits |
SMARTi | View protein in SMART SM00360, RRM, 3 hits SM00361, RRM_1, 2 hits |
SUPFAMi | SSF54928, SSF54928, 2 hits |
TIGRFAMsi | TIGR01622, SF-CC1, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q14498-1) [UniParc]FASTAAdd to basket
Also known as: HCC1.4
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MADDIDIEAM LEAPYKKDEN KLSSANGHEE RSKKRKKSKS RSRSHERKRS
60 70 80 90 100
KSKERKRSRD RERKKSKSRE RKRSRSKERR RSRSRSRDRR FRGRYRSPYS
110 120 130 140 150
GPKFNSAIRG KIGLPHSIKL SRRRSRSKSP FRKDKSPVRE PIDNLTPEER
160 170 180 190 200
DARTVFCMQL AARIRPRDLE EFFSTVGKVR DVRMISDRNS RRSKGIAYVE
210 220 230 240 250
FVDVSSVPLA IGLTGQRVLG VPIIVQASQA EKNRAAAMAN NLQKGSAGPM
260 270 280 290 300
RLYVGSLHFN ITEDMLRGIF EPFGRIESIQ LMMDSETGRS KGYGFITFSD
310 320 330 340 350
SECAKKALEQ LNGFELAGRP MKVGHVTERT DASSASSFLD SDELERTGID
360 370 380 390 400
LGTTGRLQLM ARLAEGTGLQ IPPAAQQALQ MSGSLAFGAV AEFSFVIDLQ
410 420 430 440 450
TRLSQQTEAS ALAAAASVQP LATQCFQLSN MFNPQTEEEV GWDTEIKDDV
460 470 480 490 500
IEECNKHGGV IHIYVDKNSA QGNVYVKCPS IAAAIAAVNA LHGRWFAGKM
510 520 530
ITAAYVPLPT YHNLFPDSMT ATQLLVPSRR
Computationally mapped potential isoform sequencesi
There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG3XAC6 | G3XAC6_HUMAN | RNA-binding protein 39 | RBM39 RNPC2, hCG_38221 | 423 | Annotation score: | ||
Q5QP23 | Q5QP23_HUMAN | RNA-binding protein 39 | RBM39 | 231 | Annotation score: | ||
Q5QP22 | Q5QP22_HUMAN | RNA-binding protein 39 | RBM39 | 193 | Annotation score: | ||
H0Y4X3 | H0Y4X3_HUMAN | RNA-binding protein 39 | RBM39 | 336 | Annotation score: | ||
A0A0U1RQH7 | A0A0U1RQH7_HUMAN | RNA-binding protein 39 | RBM39 | 245 | Annotation score: | ||
H0Y6I9 | H0Y6I9_HUMAN | RNA-binding protein 39 | RBM39 | 86 | Annotation score: | ||
F8WF24 | F8WF24_HUMAN | RNA-binding protein 39 | RBM39 | 39 | Annotation score: | ||
A0A0U1RQW2 | A0A0U1RQW2_HUMAN | RNA-binding protein 39 | RBM39 | 163 | Annotation score: | ||
A8MYG5 | A8MYG5_HUMAN | RNA-binding protein 39 | RBM39 | 95 | Annotation score: | ||
F2Z2Z5 | F2Z2Z5_HUMAN | RNA-binding protein 39 | RBM39 | 47 | Annotation score: | ||
There are more potential isoformsShow all |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015228 | 2 | A → V. Corresponds to variant dbSNP:rs1803701Ensembl. | 1 | |
Natural variantiVAR_083212 | 265 | M → L Associated with resistance to anticancer indisulam; decreased interaction with the DCX(DCAF15) complex in presence of indisulam; abolished degradation by the DCX(DCAF15) complex in presence of indisulam. 1 Publication | 1 | |
Natural variantiVAR_083213 | 268 | G → E Associated with resistance to anticancer indisulam. 1 Publication | 1 | |
Natural variantiVAR_083214 | 268 | G → R Associated with resistance to anticancer indisulam; abolished degradation by the DCX(DCAF15) complex in presence of indisulam. 1 Publication | 1 | |
Natural variantiVAR_083215 | 268 | G → V Associated with resistance to anticancer indisulam; decreased interaction with the DCX(DCAF15) complex in presence of indisulam; abolished degradation by the DCX(DCAF15) complex in presence of indisulam. 2 Publications | 1 | |
Natural variantiVAR_083216 | 268 | G → W Associated with resistance to anticancer indisulam; decreased interaction with the DCX(DCAF15) complex in presence of indisulam; abolished degradation by the DCX(DCAF15) complex in presence of indisulam. 1 Publication | 1 | |
Natural variantiVAR_083217 | 271 | E → G Associated with resistance to anticancer indisulam. 1 Publication | 1 | |
Natural variantiVAR_083218 | 271 | E → Q Associated with resistance to anticancer indisulam; abolished degradation by the DCX(DCAF15) complex in presence of indisulam. 1 Publication | 1 | |
Natural variantiVAR_083219 | 272 | P → S Associated with resistance to anticancer indisulam; abolished degradation by the DCX(DCAF15) complex in presence of indisulam. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043375 | 100 – 121 | Missing in isoform 3. 2 PublicationsAdd BLAST | 22 | |
Alternative sequenceiVSP_005820 | 392 – 397 | Missing in isoform 2. 1 Publication | 6 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L10910 mRNA Translation: AAA16346.1 L10911 mRNA Translation: AAA16347.1 AK299678 mRNA Translation: BAG61586.1 AL357374 Genomic DNA No translation available. CH471077 Genomic DNA Translation: EAW76159.1 CH471077 Genomic DNA Translation: EAW76161.1 CH471077 Genomic DNA Translation: EAW76162.1 CH471077 Genomic DNA Translation: EAW76163.1 BC131543 mRNA Translation: AAI31544.1 BC141835 mRNA Translation: AAI41836.1 BC158172 mRNA Translation: AAI58173.1 |
CCDSi | CCDS13265.1 [Q14498-2] CCDS13266.1 [Q14498-1] CCDS56186.1 [Q14498-3] |
PIRi | I55595 |
RefSeqi | NP_001229528.1, NM_001242599.1 [Q14498-3] NP_001229529.1, NM_001242600.1 NP_004893.1, NM_004902.3 [Q14498-2] NP_909122.1, NM_184234.2 [Q14498-1] |
Genome annotation databases
Ensembli | ENST00000253363; ENSP00000253363; ENSG00000131051 [Q14498-1] ENST00000361162; ENSP00000354437; ENSG00000131051 [Q14498-2] ENST00000528062; ENSP00000436747; ENSG00000131051 [Q14498-3] |
GeneIDi | 9584 |
KEGGi | hsa:9584 |
UCSCi | uc002xeb.4, human [Q14498-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L10910 mRNA Translation: AAA16346.1 L10911 mRNA Translation: AAA16347.1 AK299678 mRNA Translation: BAG61586.1 AL357374 Genomic DNA No translation available. CH471077 Genomic DNA Translation: EAW76159.1 CH471077 Genomic DNA Translation: EAW76161.1 CH471077 Genomic DNA Translation: EAW76162.1 CH471077 Genomic DNA Translation: EAW76163.1 BC131543 mRNA Translation: AAI31544.1 BC141835 mRNA Translation: AAI41836.1 BC158172 mRNA Translation: AAI58173.1 |
CCDSi | CCDS13265.1 [Q14498-2] CCDS13266.1 [Q14498-1] CCDS56186.1 [Q14498-3] |
PIRi | I55595 |
RefSeqi | NP_001229528.1, NM_001242599.1 [Q14498-3] NP_001229529.1, NM_001242600.1 NP_004893.1, NM_004902.3 [Q14498-2] NP_909122.1, NM_184234.2 [Q14498-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2JRS | NMR | - | A | 235-331 | [»] | |
2MHN | NMR | - | A | 144-234 | [»] | |
4OO6 | X-ray | 2.70 | B | 73-99 | [»] | |
4OZ0 | X-ray | 2.20 | A/B | 417-530 | [»] | |
4OZ1 | X-ray | 1.74 | A/B | 417-530 | [»] | |
4YUD | X-ray | 1.28 | A | 144-234 | [»] | |
6PAI | X-ray | 2.90 | D | 235-331 | [»] | |
6Q0R | X-ray | 2.90 | D | 250-332 | [»] | |
6Q0V | X-ray | 2.90 | D | 250-332 | [»] | |
6Q0W | X-ray | 2.90 | D | 250-332 | [»] | |
6SJ7 | electron microscopy | 3.54 | C | 91-171 | [»] | |
6UD7 | X-ray | 2.3 | C | 91-171 | [»] | |
6UE5 | X-ray | 2.61 | C | 91-171 | [»] | |
BMRBi | Q14498 | |||||
SMRi | Q14498 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114952, 225 interactors |
CORUMi | Q14498 |
DIPi | DIP-32928N |
IntActi | Q14498, 99 interactors |
MINTi | Q14498 |
STRINGi | 9606.ENSP00000253363 |
PTM databases
iPTMneti | Q14498 |
MetOSitei | Q14498 |
PhosphoSitePlusi | Q14498 |
SwissPalmi | Q14498 |
Polymorphism and mutation databases
BioMutai | RBM39 |
DMDMi | 28201880 |
Proteomic databases
EPDi | Q14498 |
jPOSTi | Q14498 |
MassIVEi | Q14498 |
MaxQBi | Q14498 |
PaxDbi | Q14498 |
PeptideAtlasi | Q14498 |
PRIDEi | Q14498 |
ProteomicsDBi | 60005 [Q14498-1] 60006 [Q14498-2] 60007 [Q14498-3] |
Protocols and materials databases
Antibodypediai | 459, 224 antibodies |
Genome annotation databases
Ensembli | ENST00000253363; ENSP00000253363; ENSG00000131051 [Q14498-1] ENST00000361162; ENSP00000354437; ENSG00000131051 [Q14498-2] ENST00000528062; ENSP00000436747; ENSG00000131051 [Q14498-3] |
GeneIDi | 9584 |
KEGGi | hsa:9584 |
UCSCi | uc002xeb.4, human [Q14498-1] |
Organism-specific databases
CTDi | 9584 |
DisGeNETi | 9584 |
EuPathDBi | HostDB:ENSG00000131051.21 |
GeneCardsi | RBM39 |
HGNCi | HGNC:15923, RBM39 |
HPAi | ENSG00000131051, Low tissue specificity |
MIMi | 604739, gene |
neXtProti | NX_Q14498 |
OpenTargetsi | ENSG00000131051 |
PharmGKBi | PA34450 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0147, Eukaryota |
GeneTreei | ENSGT00940000154468 |
InParanoidi | Q14498 |
OMAi | RQARNPE |
OrthoDBi | 873705at2759 |
PhylomeDBi | Q14498 |
TreeFami | TF320448 |
Enzyme and pathway databases
PathwayCommonsi | Q14498 |
Miscellaneous databases
BioGRID-ORCSi | 9584, 689 hits in 857 CRISPR screens |
ChiTaRSi | RBM39, human |
EvolutionaryTracei | Q14498 |
GeneWikii | RBM39 |
GenomeRNAii | 9584 |
Pharosi | Q14498, Tbio |
PROi | PR:Q14498 |
RNActi | Q14498, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131051, Expressed in intestine and 209 other tissues |
ExpressionAtlasi | Q14498, baseline and differential |
Genevisiblei | Q14498, HS |
Family and domain databases
Gene3Di | 3.30.70.330, 3 hits |
IDEALi | IID00567 |
InterProi | View protein in InterPro IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR029123, RBM39_linker IPR006509, RBM39_SF IPR000504, RRM_dom IPR003954, RRM_dom_euk |
Pfami | View protein in Pfam PF15519, RBM39linker, 1 hit PF00076, RRM_1, 2 hits |
SMARTi | View protein in SMART SM00360, RRM, 3 hits SM00361, RRM_1, 2 hits |
SUPFAMi | SSF54928, SSF54928, 2 hits |
TIGRFAMsi | TIGR01622, SF-CC1, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RBM39_HUMAN | |
Accessioni | Q14498Primary (citable) accession number: Q14498 Secondary accession number(s): A2RRD3 Q14499 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 2003 |
Last sequence update: | February 1, 2003 | |
Last modified: | December 2, 2020 | |
This is version 216 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations