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O95428 (PPN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Papilin
Gene names
Name:PAPLN
ORF Names:UNQ2420/PRO4977
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1278 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Secreted Potential.

Sequence similarities

Belongs to the papilin family.

Contains 1 BPTI/Kunitz inhibitor domain.

Contains 3 Ig-like C2-type (immunoglobulin-like) domains.

Contains 1 PLAC domain.

Contains 5 TSP type-1 domains.

Sequence caution

The sequence AAC97963.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence BAC86235.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAG57189.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAG57189.1 differs from that shown. Reason: Erroneous termination at position 1216. Translated as Glu.

The sequence BAG57757.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence CAH56406.1 differs from that shown. Reason: Partially unspliced mRNA.

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95428-1)

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: O95428-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-801: Missing.
     802-907: SSCQGSLHGP...PAPPFHSSSY → MGPVVPSLGL...PPTDLTSHLS
Note: No experimental confirmation available.
Isoform 5 (identifier: O95428-5)

The sequence of this isoform differs from the canonical sequence as follows:
     749-764: Missing.
Isoform 6 (identifier: O95428-6)

The sequence of this isoform differs from the canonical sequence as follows:
     197-223: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: O95428-3)

The sequence of this isoform differs from the canonical sequence as follows:
     124-129: GENFYY → VLGLQA
     130-1278: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: O95428-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1088-1109: RHQLQPDGSLVISRVAVEDGGF → STHRPAQGPWQGLRRPARAGQL
     1110-1278: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 12781260Papilin
PRO_0000324550

Regions

Domain26 – 8055TSP type-1 1
Domain304 – 36158TSP type-1 2
Domain362 – 42160TSP type-1 3
Domain423 – 48159TSP type-1 4
Domain484 – 53956TSP type-1 5
Domain754 – 80451BPTI/Kunitz inhibitor
Domain900 – 99596Ig-like C2-type 1
Domain1033 – 112896Ig-like C2-type 2
Domain1133 – 121886Ig-like C2-type 3
Domain1231 – 127040PLAC

Amino acid modifications

Disulfide bond38 ↔ 74 By similarity
Disulfide bond42 ↔ 79 By similarity
Disulfide bond53 ↔ 64 By similarity
Disulfide bond316 ↔ 355 By similarity
Disulfide bond320 ↔ 360 By similarity
Disulfide bond331 ↔ 343 By similarity
Disulfide bond754 ↔ 804 By similarity
Disulfide bond763 ↔ 787 By similarity
Disulfide bond779 ↔ 800 By similarity
Disulfide bond931 ↔ 978 By similarity
Disulfide bond1065 ↔ 1112 By similarity
Disulfide bond1154 ↔ 1202 By similarity

Natural variations

Alternative sequence1 – 801801Missing in isoform 2.
VSP_032269
Alternative sequence124 – 1296GENFYY → VLGLQA in isoform 3.
VSP_032270
Alternative sequence130 – 12781149Missing in isoform 3.
VSP_032271
Alternative sequence197 – 22327Missing in isoform 6.
VSP_037595
Alternative sequence749 – 76416Missing in isoform 5.
VSP_037596
Alternative sequence802 – 907106SSCQG…HSSSY → MGPVVPSLGLLEGAPTRMVA AAVLQASRNPASTGQGPRCR ESPGLLVVSGGKTNSLGQGR PPTPRPLENGHGGRSLGPGP LDWVEMPDHQRHPSTAPPTD LTSHLS in isoform 2.
VSP_032272
Alternative sequence1088 – 110922RHQLQ…EDGGF → STHRPAQGPWQGLRRPARAG QL in isoform 4.
VSP_032273
Alternative sequence1110 – 1278169Missing in isoform 4.
VSP_032274
Natural variant331S → G.
Corresponds to variant rs2280792 [ dbSNP | Ensembl ].
VAR_039815
Natural variant1911A → T.
Corresponds to variant rs741842 [ dbSNP | Ensembl ].
VAR_039816
Natural variant3561N → H.
Corresponds to variant rs17126331 [ dbSNP | Ensembl ].
VAR_039817
Natural variant4431V → I.
Corresponds to variant rs17126352 [ dbSNP | Ensembl ].
VAR_039818
Natural variant4611A → V.
Corresponds to variant rs17126354 [ dbSNP | Ensembl ].
VAR_039819
Natural variant6281H → R.
Corresponds to variant rs17182244 [ dbSNP | Ensembl ].
VAR_039820
Natural variant7231Q → H.
Corresponds to variant rs2242616 [ dbSNP | Ensembl ].
VAR_039821
Natural variant8961G → R. Ref.3
Corresponds to variant rs177386 [ dbSNP | Ensembl ].
VAR_039822
Natural variant11921L → V.
Corresponds to variant rs2107731 [ dbSNP | Ensembl ].
VAR_039823
Natural variant12011T → M. Ref.1
Corresponds to variant rs4903104 [ dbSNP | Ensembl ].
VAR_039824
Natural variant12601S → T.
Corresponds to variant rs11626824 [ dbSNP | Ensembl ].
VAR_039825

Experimental info

Sequence conflict3261S → P in BAG57757. Ref.2
Sequence conflict6931M → R in BAG57757. Ref.2
Sequence conflict6931M → R in CAD97826. Ref.5
Sequence conflict6931M → R in BAC85123. Ref.6
Sequence conflict11621N → D in BAG57189. Ref.2
Sequence conflict12291R → K in CAD97826. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 7, 2009. Version 4.
Checksum: A8DED3CADB0D70C1

FASTA1,278137,700
        10         20         30         40         50         60 
MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG 

        70         80         90        100        110        120 
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC 

       130        140        150        160        170        180 
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT 

       190        200        210        220        230        240 
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI 

       250        260        270        280        290        300 
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR 

       310        320        330        340        350        360 
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC 

       370        380        390        400        410        420 
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN 

       430        440        450        460        470        480 
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC 

       490        500        510        520        530        540 
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL 

       550        560        570        580        590        600 
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG 

       610        620        630        640        650        660 
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ 

       670        680        690        700        710        720 
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGMPRSRAVA STVHNTHQPQ AQQNEPSECR 

       730        740        750        760        770        780 
GSQFGCCYDN VATAAGPLGE GCVGQPSHAY PVRCLLPSAH GSCADWAARW YFVASVGQCN 

       790        800        810        820        830        840 
RFWYGGCHGN ANNFASEQEC MSSCQGSLHG PRRPQPGASG RSTHTDGGGS SPAGEQEPSQ 

       850        860        870        880        890        900 
HRTGAAVQRK PWPSGGLWRQ DQQPGPGEAP HTQAFGEWPW GQELGSRAPG LGGDAGSPAP 

       910        920        930        940        950        960 
PFHSSSYRIS LAGVEPSLVQ AALGQLVRLS CSDDTAPESQ AAWQKDGQPI SSDRHRLQFD 

       970        980        990       1000       1010       1020 
GSLIIHPLQA EDAGTYSCGS TRPGRDSQKI QLRIIGGDMA VLSEAELSRF PQPRDPAQDF 

      1030       1040       1050       1060       1070       1080 
GQAGAAGPLG AIPSSHPQPA NRLRLDQNQP RVVDASPGQR IRMTCRAEGF PPPAIEWQRD 

      1090       1100       1110       1120       1130       1140 
GQPVSSPRHQ LQPDGSLVIS RVAVEDGGFY TCVAFNGQDR DQRWVQLRVL GELTISGLPP 

      1150       1160       1170       1180       1190       1200 
TVTVPEGDTA RLLCVVAGES VNIRWSRNGL PVQADGHRVH QSPDGTLLIY NLRARDEGSY 

      1210       1220       1230       1240       1250       1260 
TCSAYQGSQA VSRSTEVKVV SPAPTAQPRD PGRDCVDQPE LANCDLILQA QLCGNEYYSS 

      1270 
FCCASCSRFQ PHAQPIWQ 

« Hide

Isoform 2 [UniParc].

Checksum: 1979A1F2428DE816
Show »

FASTA47751,082
Isoform 5 [UniParc].

Checksum: 3D334E4C30CDE94F
Show »

FASTA1,262136,073
Isoform 6 [UniParc].

Checksum: 149C41975845C4E9
Show »

FASTA1,251134,840
Isoform 3 [UniParc].

Checksum: D51144A494C12B3B
Show »

FASTA12914,368
Isoform 4 [UniParc].

Checksum: FB23C426C3F47E83
Show »

FASTA1,109119,209

References

[1]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT MET-1201.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 800-1217 (ISOFORM 4).
Tissue: Amygdala, Cerebellum and Synovial cell.
[3]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-896.
[4]"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] (ISOFORM 3).
Tissue: Ovary.
[5]"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 81-302 (ISOFORM 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 619-1278 (ISOFORM 1).
Tissue: Liver and Testis.
[6]"The nucleotide sequence of a long cDNA clone isolated from human spleen."
Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.
Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 620-1278 (ISOFORM 1).
Tissue: Spleen.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY358330 mRNA. Translation: AAQ88696.1.
AK125658 mRNA. Translation: BAC86235.1. Different initiation.
AK294560 mRNA. Translation: BAG57757.1. Different initiation.
AK293773 mRNA. Translation: BAG57189.1. Sequence problems.
AC004846 Genomic DNA. No translation available.
AF109907 Genomic DNA. Translation: AAC97963.1. Sequence problems.
BC042057 mRNA. Translation: AAH42057.1.
AL110280 mRNA. Translation: CAH56406.1. Sequence problems.
BX470414 mRNA. No translation available.
BX537757 mRNA. Translation: CAD97826.1.
AK131073 mRNA. Translation: BAC85123.1.
CCDSCCDS32114.1. [O95428-6]
RefSeqNP_775733.3. NM_173462.3. [O95428-6]
UniGeneHs.509909.

3D structure databases

ProteinModelPortalO95428.
ModBaseSearch...
MobiDBSearch...

Protein family/group databases

MEROPSI02.972.

PTM databases

PhosphoSiteO95428.

Proteomic databases

PaxDbO95428.
PRIDEO95428.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000340738; ENSP00000345395; ENSG00000100767. [O95428-6]
ENST00000381166; ENSP00000370558; ENSG00000100767. [O95428-4]
ENST00000427855; ENSP00000403403; ENSG00000100767. [O95428-1]
ENST00000554301; ENSP00000451803; ENSG00000100767. [O95428-1]
ENST00000555445; ENSP00000451729; ENSG00000100767. [O95428-5]
GeneID89932.
KEGGhsa:89932.
UCSCuc001xnw.4. human. [O95428-6]
uc010arm.3. human. [O95428-2]
uc010ttx.2. human. [O95428-1]
uc010tty.2. human. [O95428-5]

Organism-specific databases

CTD89932.
GeneCardsGC14P073704.
H-InvDBHIX0019543.
HIX0037927.
HGNCHGNC:19262. PAPLN.
HPAHPA048682.
neXtProtNX_O95428.
PharmGKBPA134914395.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG242665.
HOVERGENHBG108281.
OMASVNIRWS.
OrthoDBEOG7W419Z.
PhylomeDBO95428.
TreeFamTF316874.

Gene expression databases

ArrayExpressO95428.
BgeeO95428.
CleanExHS_PAPLN.
GenevestigatorO95428.

Family and domain databases

Gene3D2.60.40.10. 3 hits.
4.10.410.10. 1 hit.
InterProIPR010294. ADAM_spacer1.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003598. Ig_sub2.
IPR013273. Peptidase_M12B_ADAM-TS.
IPR010909. PLAC.
IPR002223. Prot_inh_Kunz-m.
IPR020901. Prtase_inh_Kunz-CS.
IPR000884. Thrombospondin_1_rpt.
[Graphical view]
PfamPF05986. ADAM_spacer1. 1 hit.
PF07679. I-set. 3 hits.
PF00014. Kunitz_BPTI. 1 hit.
PF08686. PLAC. 1 hit.
PF00090. TSP_1. 5 hits.
[Graphical view]
PRINTSPR01857. ADAMTSFAMILY.
PR00759. BASICPTASE.
SMARTSM00408. IGc2. 3 hits.
SM00131. KU. 1 hit.
SM00209. TSP1. 5 hits.
[Graphical view]
SUPFAMSSF57362. SSF57362. 1 hit.
SSF82895. SSF82895. 5 hits.
PROSITEPS00280. BPTI_KUNITZ_1. 1 hit.
PS50279. BPTI_KUNITZ_2. 1 hit.
PS50835. IG_LIKE. 3 hits.
PS50900. PLAC. 1 hit.
PS50092. TSP1. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPAPLN. human.
GeneWikiPAPLN.
GenomeRNAi89932.
NextBio76441.
PROO95428.

Entry information

Entry namePPN_HUMAN
AccessionPrimary (citable) accession number: O95428
Secondary accession number(s): B4DES8 expand/collapse secondary AC list , B4DGE6, Q659F2, Q6UXJ4, Q6ZNM1, Q6ZUJ0, Q7Z681, Q8IVU0
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: July 7, 2009
Last modified: July 9, 2014
This is version 104 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM