Q9Y5V3 (MAGD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Melanoma-associated antigen D1

Alternative name(s):
MAGE tumor antigen CCF
MAGE-D1 antigen
Neurotrophin receptor-interacting MAGE homolog

Gene names

Name:	MAGED1
Synonyms:	NRAGE
ORF Names:	PP2250, PRO2292

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	778 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Binds NGFR/p75NTR and antagonizes its association with NTRK1/TrkA, inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May regulate TP53/p53 transcriptional activity and inhibit cell proliferation. Enhances TP53 phosphorylation and accumulation. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Ref.11
Subunit structure	Interacts with DLX5, DLX7 and MSX2 and forms homomultimers. Interacts with UNC5A By similarity. Interacts with the p75 neurotrophin receptor. Interacts with TRIM28 and PJA1. Ref.11
Subcellular location	Cytoplasm By similarity. Cell membrane; Peripheral membrane protein By similarity. Note: Expression shifts from the cytoplasm to the plasma membrane upon stimulation with NGF By similarity.
Tissue specificity	Expressed in bone marrow stromal cells from both multiple myeloma patients and healthy donors. Seems to be ubiquitously expressed.
Sequence similarities	Contains 1 MAGE domain.
Sequence caution	The sequence AAD31421.1 differs from that shown. Reason: Erroneous initiation. The sequence AAG35551.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Ubl conjugation pathway
Cellular component	Cell membrane Cytoplasm Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Molecular function	Tumor antigen
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	apoptotic process Traceable author statement. Source: Reactome negative regulation of epithelial cell proliferation Inferred from direct assay PubMed 15930293. Source: UniProtKB negative regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: Compara nerve growth factor receptor signaling pathway Traceable author statement. Source: Reactome positive regulation of MAP kinase activity Inferred from electronic annotation. Source: Compara positive regulation of apoptotic process Inferred from electronic annotation. Source: Compara positive regulation of branching involved in ureteric bud morphogenesis Inferred from electronic annotation. Source: Compara positive regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: Compara regulation of apoptotic process Traceable author statement PubMed 15930293. Source: UniProtKB regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara regulation of transcription, DNA-dependent Traceable author statement PubMed 15930293. Source: UniProtKB
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell protein complex Inferred from direct assay PubMed 15930293. Source: UniProtKB
Molecular_function	transcription coactivator activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PJA1	Q8NG27	4	EBI-716006,EBI-714606

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y5V3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9Y5V3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     15-15: Q → QNPDACRAVCHPLPQPPASTLPLSAFPTLCDPPYSQLRDPPAVLSCYCTPLGASPAP

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 778	778	Melanoma-associated antigen D1		PRO_0000156723
Regions
	Repeat	296 – 301	6	1
	Repeat	302 – 307	6	2
	Repeat	308 – 313	6	3
	Repeat	332 – 337	6	4
	Repeat	338 – 343	6	5
	Repeat	344 – 349	6	6
	Repeat	350 – 355	6	7
	Repeat	356 – 361	6	8
	Repeat	362 – 367	6	9
	Repeat	368 – 373	6	10
	Repeat	374 – 379	6	11
	Repeat	380 – 385	6	12
	Repeat	386 – 391	6	13
	Repeat	392 – 397	6	14
	Repeat	398 – 403	6	15
	Repeat	404 – 409	6	16
	Repeat	410 – 415	6	17
	Repeat	416 – 421	6	18
	Repeat	422 – 427	6	19
	Repeat	428 – 432	5	20; approximate
	Repeat	433 – 438	6	21
	Repeat	439 – 444	6	22
	Domain	471 – 669	199	MAGE
	Region	296 – 444	149	22 X 6 AA tandem repeats of W-[PQ]-X-P-X-X
	Compositional bias	279 – 452	174	Pro-rich
Amino acid modifications
	Modified residue	92	1	Phosphotyrosine Ref.10
Natural variations
	Alternative sequence	15	1	Q → QNPDACRAVCHPLPQPPAST LPLSAFPTLCDPPYSQLRDP PAVLSCYCTPLGASPAP in isoform 2.		VSP_009286
	Natural variant	238	1	L → M. Corresponds to variant rs12689461 [ dbSNP | Ensembl ].		VAR_060070
Experimental info
	Sequence conflict	119	1	P → S in AAG09704. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 26, 2005. Version 3. Checksum: D818690052D166CE	FASTA	778	86,161
	10 20 30 40 50 60 MAQKMDCGAG LLGFQAEASV EDSALLMQTL MEAIQISEAP PTNQATAAAS PQSSQPPTAN 70 80 90 100 110 120 EMADIQVSAA AARPKSAFKV QNATTKGPNG VYDFSQAHNA KDVPNTQPKA AFKSQNATPK 130 140 150 160 170 180 GPNAAYDFSQ AATTGELAAN KSEMAFKAQN ATTKVGPNAT YNFSQSLNAN DLANSRPKTP 190 200 210 220 230 240 FKAWNDTTKA PTADTQTQNV NQAKMATSQA DIETDPGISE PDGATAQTSA DGSQAQNLES 250 260 270 280 290 300 RTIIRGKRTR KINNLNVEEN SSGDQRRAPL AAGTWRSAPV PVTTQNPPGA PPNVLWQTPL 310 320 330 340 350 360 AWQNPSGWQN QTARQTPPAR QSPPARQTPP AWQNPVAWQN PVIWPNPVIW QNPVIWPNPI 370 380 390 400 410 420 VWPGPVVWPN PLAWQNPPGW QTPPGWQTPP GWQGPPDWQG PPDWPLPPDW PLPPDWPLPT 430 440 450 460 470 480 DWPLPPDWIP ADWPIPPDWQ NLRPSPNLRP SPNSRASQNP GAAQPRDVAL LQERANKLVK 490 500 510 520 530 540 YLMLKDYTKV PIKRSEMLRD IIREYTDVYP EIIERACFVL EKKFGIQLKE IDKEEHLYIL 550 560 570 580 590 600 ISTPESLAGI LGTTKDTPKL GLLLVILGVI FMNGNRASEA VLWEALRKMG LRPGVRHPLL 610 620 630 640 650 660 GDLRKLLTYE FVKQKYLDYR RVPNSNPPEY EFLWGLRSYH ETSKMKVLRF IAEVQKRDPR 670 680 690 700 710 720 DWTAQFMEAA DEALDALDAA AAEAEARAEA RTRMGIGDEA VSGPWSWDDI EFELLTWDEE 730 740 750 760 770 GDFGDPWSRI PFTFWARYHQ NARSRFPQTF AGPIIGPGGT ASANFAANFG AIGFFWVE
	Isoform 2 [UniParc]. Checksum: CD8E13CE9B35EA7C	FASTA	834	91,959
	10 20 30 40 50 60 MAQKMDCGAG LLGFQNPDAC RAVCHPLPQP PASTLPLSAF PTLCDPPYSQ LRDPPAVLSC 70 80 90 100 110 120 YCTPLGASPA PAEASVEDSA LLMQTLMEAI QISEAPPTNQ ATAAASPQSS QPPTANEMAD 130 140 150 160 170 180 IQVSAAAARP KSAFKVQNAT TKGPNGVYDF SQAHNAKDVP NTQPKAAFKS QNATPKGPNA 190 200 210 220 230 240 AYDFSQAATT GELAANKSEM AFKAQNATTK VGPNATYNFS QSLNANDLAN SRPKTPFKAW 250 260 270 280 290 300 NDTTKAPTAD TQTQNVNQAK MATSQADIET DPGISEPDGA TAQTSADGSQ AQNLESRTII 310 320 330 340 350 360 RGKRTRKINN LNVEENSSGD QRRAPLAAGT WRSAPVPVTT QNPPGAPPNV LWQTPLAWQN 370 380 390 400 410 420 PSGWQNQTAR QTPPARQSPP ARQTPPAWQN PVAWQNPVIW PNPVIWQNPV IWPNPIVWPG 430 440 450 460 470 480 PVVWPNPLAW QNPPGWQTPP GWQTPPGWQG PPDWQGPPDW PLPPDWPLPP DWPLPTDWPL 490 500 510 520 530 540 PPDWIPADWP IPPDWQNLRP SPNLRPSPNS RASQNPGAAQ PRDVALLQER ANKLVKYLML 550 560 570 580 590 600 KDYTKVPIKR SEMLRDIIRE YTDVYPEIIE RACFVLEKKF GIQLKEIDKE EHLYILISTP 610 620 630 640 650 660 ESLAGILGTT KDTPKLGLLL VILGVIFMNG NRASEAVLWE ALRKMGLRPG VRHPLLGDLR 670 680 690 700 710 720 KLLTYEFVKQ KYLDYRRVPN SNPPEYEFLW GLRSYHETSK MKVLRFIAEV QKRDPRDWTA 730 740 750 760 770 780 QFMEAADEAL DALDAAAAEA EARAEARTRM GIGDEAVSGP WSWDDIEFEL LTWDEEGDFG 790 800 810 820 830 DPWSRIPFTF WARYHQNARS RFPQTFAGPI IGPGGTASAN FAANFGAIGF FWVE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"NRAGE, a novel MAGE protein, interacts with the p75 neurotrophin receptor and facilitates nerve growth factor dependent apoptosis." Salehi A.H., Roux P.P., Kubu C.J., Zeindler C., Bhakar A., Tannis L.-L., Verdi J.M., Barker P.A. Neuron 27:279-288(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"hNRAGE, a human neurotrophin receptor interacting MAGE homologue, regulates p53 transcriptional activity and inhibits cell proliferation." Wen C.-J., Xue B., Qin W.-X., Yu M., Zhang M.-Y., Zhao D.-H., Gao X., Gu J.-R., Li C.-J. FEBS Lett. 564:171-176(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Placenta.
[3]	"Identification and characterization of a new member of the MAGE gene family." Chen Y. Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Blood and Skin.
[6]	"Identification of a new, unorthodox member of the MAGE gene family." Pold M., Zhou J., Chen G.L., Hall J.M., Vescio R.A., Berenson J.R. Genomics 59:161-167(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 202-778 (ISOFORM 1). Tissue: Bone marrow.
[7]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 304-778. Tissue: Testis.
[8]	"A new melanoma antigen-encoding gene subfamily in human chromosome X." Zhang C.G., Xing G.C., Wei H.D., Yu Y.T., He F.C. Yi Chuan Xue Bao 28:197-203(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-778. Tissue: Fetal liver.
[9]	"Identification of the translational initiation codon in human MAGED1." Kubu C.J., Goldhawk D.G., Barker P.A., Verdi J.M. Genomics 70:150-152(2000) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION OF THE TRANSLATIONAL INITIATION CODON.
[10]	"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells." Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J. Nat. Biotechnol. 23:94-101(2005) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-92, MASS SPECTROMETRY.
[11]	"MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases." Doyle J.M., Gao J., Wang J., Yang M., Potts P.R. Mol. Cell 39:963-974(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH TRIM28 AND PJA1.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF217963 mRNA. Translation: AAG09704.1. AF258554 mRNA. Translation: AAG23757.1. AF300328 mRNA. Translation: AAQ14483.1. AL929410 Genomic DNA. Translation: CAH71560.1. AL929410 Genomic DNA. Translation: CAH71561.1. BC014070 mRNA. Translation: AAH14070.1. BC032473 mRNA. Translation: AAH32473.1. AF124440 mRNA. Translation: AAD31421.1. Different initiation. AL133628 mRNA. Translation: CAB63752.1. AF132205 mRNA. Translation: AAG35551.1. Different initiation.
IPI	IPI00328354. IPI00398845.
PIR	T43464.
RefSeq	NP_001005332.1. NM_001005332.1. NP_001005333.1. NM_001005333.1. NP_008917.3. NM_006986.3.
UniGene	Hs.5258.
3D structure databases
ProteinModelPortal	Q9Y5V3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y5V3. 22 interactions.
MINT	MINT-209401.
STRING	9606.ENSP00000364847.
PTM databases
PhosphoSite	Q9Y5V3.
Polymorphism databases
DMDM	62906893.
Proteomic databases
PaxDb	Q9Y5V3.
PRIDE	Q9Y5V3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000326587; ENSP00000325333; ENSG00000179222. ENST00000375695; ENSP00000364847; ENSG00000179222. ENST00000375722; ENSP00000364874; ENSG00000179222. ENST00000375772; ENSP00000364927; ENSG00000179222. ENST00000593373; ENSP00000472440; ENSG00000268018. ENST00000597428; ENSP00000473070; ENSG00000268018. ENST00000597768; ENSP00000471216; ENSG00000268018. ENST00000599927; ENSP00000469692; ENSG00000268018.
GeneID	9500.
KEGG	hsa:9500.
UCSC	uc004dpm.3. human. uc004dpn.3. human.
Organism-specific databases
CTD	9500.
GeneCards	GC0XP051562.
HGNC	HGNC:6813. MAGED1.
HPA	CAB015165.
MIM	300224. gene.
neXtProt	NX_Q9Y5V3.
PharmGKB	PA30559.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG310785.
HOVERGEN	HBG003714.
KO	K12464.
OMA	WQNPVIW.
OrthoDB	EOG4R23V1.
Enzyme and pathway databases
Pathway_Interaction_DB	trkrpathway. Neurotrophic factor-mediated Trk receptor signaling. p75ntrpathway. p75(NTR)-mediated signaling.
Reactome	REACT_111102. Signal Transduction. REACT_578. Apoptosis.
Gene expression databases
Bgee	Q9Y5V3.
CleanEx	HS_MAGED1.
Genevestigator	Q9Y5V3.
GermOnline	ENSG00000179222. Homo sapiens.
Family and domain databases
InterPro	IPR002190. MAGE. [Graphical view]
PANTHER	PTHR11736. PTHR11736. 1 hit.
Pfam	PF01454. MAGE. 1 hit. [Graphical view]
PROSITE	PS50838. MAGE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MAGED1. human.
GenomeRNAi	9500.
NextBio	35594.
SOURCE	Search...

Entry information

Entry name

MAGD1_HUMAN

Accession

Primary (citable) accession number: Q9Y5V3
Secondary accession number(s): Q5VSH6 , Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2001
Last sequence update:	April 26, 2005
Last modified:	May 1, 2013
This is version 123 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.