Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P34059

- GALNS_HUMAN

UniProt

P34059 - GALNS_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

N-acetylgalactosamine-6-sulfatase

Gene

GALNS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Catalytic activityi

Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.1 Publication

Cofactori

Ca2+1 PublicationNote: Binds 1 Ca(2+) ion per subunit.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi39 – 391Calcium1 Publication
Metal bindingi40 – 401Calcium1 Publication
Metal bindingi79 – 791Calcium; via 3-oxoalanine1 Publication
Metal bindingi288 – 2881Calcium1 Publication
Metal bindingi289 – 2891Calcium1 Publication

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. N-acetylgalactosamine-4-sulfatase activity Source: ProtInc
  3. N-acetylgalactosamine-6-sulfatase activity Source: UniProtKB-EC
  4. sulfuric ester hydrolase activity Source: MGI

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. glycosaminoglycan metabolic process Source: Reactome
  3. keratan sulfate catabolic process Source: Reactome
  4. keratan sulfate metabolic process Source: Reactome
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS06790-MONOMER.
BRENDAi3.1.6.4. 2681.
ReactomeiREACT_121313. Keratan sulfate degradation.

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetylgalactosamine-6-sulfatase (EC:3.1.6.4)
Alternative name(s):
Chondroitinsulfatase
Short name:
Chondroitinase
Galactose-6-sulfate sulfatase
Short name:
GalN6S
N-acetylgalactosamine-6-sulfate sulfatase
Short name:
GalNAc6S sulfatase
Gene namesi
Name:GALNS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:4122. GALNS.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProtKB
  2. lysosomal lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]: A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life.12 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → M in MPS4A. 1 Publication
VAR_024873
Natural varianti16 – 161V → E in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071569
Natural varianti17 – 182Missing in MPS4A. 1 Publication
VAR_024874
Natural varianti23 – 231G → R in MPS4A. 1 Publication
VAR_024875
Natural varianti36 – 361L → P in MPS4A. 1 Publication
VAR_024876
Natural varianti36 – 361L → R in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071570
Natural varianti40 – 401D → N in MPS4A. 1 Publication
VAR_071571
Natural varianti41 – 411M → L in MPS4A. 1 Publication
VAR_024877
Natural varianti42 – 421G → E in MPS4A. 1 Publication
VAR_024878
Natural varianti47 – 471G → R in MPS4A; severe form.
VAR_007172
Natural varianti48 – 481V → G in MPS4A. 1 Publication
VAR_071572
Natural varianti51 – 511E → K in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071573
Natural varianti52 – 554Missing in MPS4A. 1 Publication
VAR_024879
Natural varianti53 – 531S → F in MPS4A. 1 Publication
VAR_024880
Natural varianti60 – 601D → N in MPS4A; mild form.
VAR_007173
Natural varianti61 – 611R → W in MPS4A. 2 Publications
VAR_024881
Natural varianti67 – 671L → M Associated with S-409 in a MPS4A patient. 1 Publication
Corresponds to variant rs11862754 [ dbSNP | Ensembl ].
VAR_007174
Natural varianti69 – 691F → V in MPS4A. 1 Publication
VAR_024882
Natural varianti71 – 744NFYS → T in MPS4A. 1 Publication
VAR_024883
Natural varianti77 – 771P → R in MPS4A; severe form. 3 Publications
VAR_007175
Natural varianti79 – 791C → Y in MPS4A. 1 Publication
VAR_024884
Natural varianti80 – 801S → L in MPS4A; intermediate form. 2 Publications
VAR_007177
Natural varianti81 – 811P → L in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071575
Natural varianti84 – 841A → E in MPS4A; loss of enzymatic activity. 1 Publication
VAR_071576
Natural varianti90 – 901R → W in MPS4A; severe form. 3 Publications
VAR_007178
Natural varianti91 – 911L → P in MPS4A; loss of enzymatic activity. 1 Publication
VAR_071577
Natural varianti94 – 941R → C in MPS4A; mild/intermediate form. 3 Publications
VAR_007179
Natural varianti94 – 941R → G in MPS4A; mild/intermediate form.
VAR_007180
Natural varianti94 – 941R → L in MPS4A. 2 Publications
VAR_024885
Natural varianti96 – 961G → C in MPS4A.
VAR_007181
Natural varianti96 – 961G → V in MPS4A; severe form. 3 Publications
VAR_007182
Natural varianti97 – 971F → V in MPS4A; mild form. 2 Publications
VAR_007183
Natural varianti107 – 1071A → T in MPS4A. 1 Publication
VAR_024886
Natural varianti111 – 1111Q → R in MPS4A; intermediate form.
VAR_007184
Natural varianti113 – 1131I → F in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry. 3 Publications
VAR_007185
Natural varianti116 – 1161G → S in MPS4A. 2 Publications
VAR_024887
Natural varianti116 – 1161G → V in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071578
Natural varianti125 – 1251P → L in MPS4A; severe form. 1 Publication
VAR_007186
Natural varianti135 – 1351S → R in MPS4A; severe form. 1 Publication
VAR_007187
Natural varianti138 – 1381V → A in MPS4A; mild/severe/intermediate form. 1 Publication
VAR_007188
Natural varianti139 – 1391G → S in MPS4A; severe form. 2 Publications
VAR_007189
Natural varianti141 – 1411W → C in MPS4A. 1 Publication
VAR_024888
Natural varianti141 – 1411W → R in MPS4A; severe form. 1 Publication
VAR_007190
Natural varianti145 – 1451H → Y in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071580
Natural varianti150 – 1501H → Y in MPS4A. 1 Publication
VAR_024889
Natural varianti151 – 1511P → L in MPS4A; severe form. 4 Publications
VAR_007191
Natural varianti151 – 1511P → S in MPS4A; severe form. 1 Publication
VAR_007192
Natural varianti155 – 1551G → E in MPS4A. 1 Publication
VAR_024890
Natural varianti155 – 1551G → R in MPS4A; severe form. 1 Publication
VAR_007193
Natural varianti156 – 1561F → C in MPS4A; severe form. 1 Publication
VAR_007194
Natural varianti156 – 1561F → L in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071581
Natural varianti156 – 1561F → S in MPS4A; mild form.
VAR_007195
Natural varianti162 – 1621S → F in MPS4A. 1 Publication
VAR_024891
Natural varianti164 – 1641N → T in MPS4A. 1 Publication
VAR_024892
Natural varianti166 – 1661H → Q in MPS4A; severe form. 1 Publication
VAR_007196
Natural varianti166 – 1661H → R in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071584
Natural varianti167 – 1671F → V in MPS4A. 1 Publication
Corresponds to variant rs148565559 [ dbSNP | Ensembl ].
VAR_024893
Natural varianti168 – 1681G → R in MPS4A.
VAR_007197
Natural varianti171 – 1711D → A in MPS4A. 1 Publication
VAR_024894
Natural varianti179 – 1791P → H in MPS4A; severe form.
VAR_007199
Natural varianti179 – 1791P → L in MPS4A; severe form. 1 Publication
VAR_007200
Natural varianti179 – 1791P → S in MPS4A. 2 Publications
VAR_024895
Natural varianti185 – 1851E → G in MPS4A; severe form. 1 Publication
VAR_007201
Natural varianti201 – 2011G → E in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071585
Natural varianti203 – 2031A → V in MPS4A. 1 Publication
VAR_024896
Natural varianti204 – 2041N → K in MPS4A; mild form. 1 Publication
VAR_007203
Natural varianti214 – 2141L → P in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071586
Natural varianti216 – 2161F → S in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071587
Natural varianti230 – 2301W → G in MPS4A; severe form. 3 Publications
VAR_007204
Natural varianti233 – 2331D → N in MPS4A. 2 Publications
VAR_024897
Natural varianti235 – 2351T → K in MPS4A. 1 Publication
VAR_071588
Natural varianti239 – 2391V → F in MPS4A. 1 Publication
VAR_024898
Natural varianti247 – 2471G → D in MPS4A.
VAR_007206
Natural varianti253 – 2531R → W in MPS4A. 1 Publication
VAR_024899
Natural varianti257 – 2571A → T in MPS4A; severe form. 1 Publication
VAR_007207
Natural varianti259 – 2591R → Q in MPS4A; mild form.
VAR_007208
Natural varianti260 – 2601E → D in MPS4A. 1 Publication
VAR_024900
Natural varianti264 – 2641S → T in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071592
Natural varianti279 – 2879Missing in MPS4A; mild form.
VAR_007209
Natural varianti284 – 2841F → V in MPS4A; severe form. 1 Publication
VAR_007210
Natural varianti285 – 2851Missing in MPS4A. 1 Publication
VAR_024901
Natural varianti287 – 2871S → L in MPS4A; severe form. 1 Publication
VAR_007211
Natural varianti290 – 2901G → S in MPS4A; severe form. 1 Publication
VAR_007212
Natural varianti291 – 2911A → D in MPS4A; mild form.
VAR_007213
Natural varianti291 – 2911A → T in MPS4A; severe form. 3 Publications
VAR_007214
Natural varianti295 – 2951S → F in MPS4A; mild form.
VAR_007215
Natural varianti301 – 3011G → C in MPS4A; severe form. 1 Publication
Corresponds to variant rs118204443 [ dbSNP | Ensembl ].
VAR_007216
Natural varianti307 – 3071L → P in MPS4A. 1 Publication
VAR_024902
Natural varianti309 – 3091G → R in MPS4A; severe form. 1 Publication
VAR_007217
Natural varianti310 – 3101K → N in MPS4A. 1 Publication
VAR_024903
Natural varianti312 – 3121T → S in MPS4A; mild/intermediate/severe form. 2 Publications
VAR_007218
Natural varianti318 – 3181M → R in MPS4A; severe form. 1 Publication
VAR_007219
Natural varianti325 – 3251W → C in MPS4A. 1 Publication
VAR_024904
Natural varianti325 – 3251Missing in MPS4A.
VAR_007220
Natural varianti340 – 3401G → D in MPS4A. 1 Publication
VAR_024905
Natural varianti341 – 3411S → R in MPS4A. 1 Publication
VAR_024906
Natural varianti343 – 3431M → R in MPS4A; severe form.
VAR_007221
Natural varianti344 – 3441D → E in MPS4A.
VAR_007222
Natural varianti344 – 3441D → N in MPS4A; severe form.
VAR_007223
Natural varianti345 – 3451L → P in MPS4A. 1 Publication
VAR_024907
Natural varianti346 – 3461F → L in MPS4A; severe form.
VAR_007224
Natural varianti351 – 3511A → V in MPS4A; severe form. 1 Publication
VAR_007225
Natural varianti352 – 3521L → P in MPS4A. 1 Publication
VAR_024908
Natural varianti357 – 3571P → L in MPS4A. 2 Publications
VAR_024909
Natural varianti361 – 3611R → G in MPS4A.
VAR_007226
Natural varianti369 – 3691L → P in MPS4A. 1 Publication
VAR_024910
Natural varianti376 – 3761R → Q in MPS4A; severe form. 1 Publication
Corresponds to variant rs150734270 [ dbSNP | Ensembl ].
VAR_007227
Natural varianti380 – 3801R → G in MPS4A; loss of enzymatic activity. 1 Publication
VAR_071593
Natural varianti380 – 3801R → S in MPS4A. 1 Publication
VAR_024911
Natural varianti380 – 3801R → T in MPS4A. 2 Publications
VAR_024912
Natural varianti386 – 3861R → C in MPS4A; severe form. 3 Publications
VAR_007228
Natural varianti386 – 3861R → H in MPS4A. 2 Publications
VAR_024913
Natural varianti388 – 3881D → N in MPS4A. 1 Publication
VAR_024914
Natural varianti391 – 3911M → V in MPS4A; severe form. 2 Publications
VAR_007229
Natural varianti392 – 3921A → V in MPS4A. 2 Publications
VAR_024915
Natural varianti395 – 3951L → P in MPS4A. 1 Publication
VAR_007231
Natural varianti395 – 3951L → V in MPS4A; severe form. 1 Publication
VAR_007232
Natural varianti398 – 3981H → D in MPS4A. 1 Publication
VAR_024916
Natural varianti401 – 4011H → Y in MPS4A. 1 Publication
VAR_024917
Natural varianti403 – 4042Missing in MPS4A. 1 Publication
VAR_024918
Natural varianti407 – 4071N → H in MPS4A. 1 Publication
VAR_007233
Natural varianti409 – 4091W → S in MPS4A; associated with M-67 in a patient.
VAR_007234
Natural varianti415 – 4151G → V in MPS4A; loss of enzymatic activity. 1 Publication
VAR_071594
Natural varianti416 – 4161I → T in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071595
Natural varianti420 – 4201P → R in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071596
Natural varianti450 – 4501E → V in MPS4A; severe form.
VAR_007235
Natural varianti452 – 4521F → I in MPS4A. 1 Publication
VAR_024919
Natural varianti470 – 4701S → P in MPS4A. 1 Publication
VAR_024920
Natural varianti484 – 4841P → S in MPS4A. 1 Publication
VAR_024921
Natural varianti487 – 4871N → S in MPS4A. 2 Publications
VAR_007237
Natural varianti492 – 4921A → T in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071597
Natural varianti494 – 4941M → V in MPS4A; severe form. 1 Publication
VAR_007239
Natural varianti500 – 5001G → S in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071599
Natural varianti507 – 5071C → F in MPS4A. 1 Publication
VAR_071600

Keywords - Diseasei

Disease mutation, Dwarfism, Mucopolysaccharidosis

Organism-specific databases

MIMi253000. phenotype.
Orphaneti309297. Mucopolysaccharidosis type 4A.
PharmGKBiPA28535.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Add
BLAST
Chaini27 – 522496N-acetylgalactosamine-6-sulfatasePRO_0000033411Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei79 – 7913-oxoalanine (Cys)1 Publication
Glycosylationi204 – 2041N-linked (GlcNAc...)1 Publication
Disulfide bondi308 ↔ 4191 Publication
Glycosylationi423 – 4231N-linked (GlcNAc...)2 Publications
Disulfide bondi489 ↔ 5181 Publication
Disulfide bondi501 ↔ 5071 Publication

Post-translational modificationi

The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP34059.
PaxDbiP34059.
PRIDEiP34059.

PTM databases

PhosphoSiteiP34059.

Expressioni

Gene expression databases

BgeeiP34059.
CleanExiHS_GALNS.
ExpressionAtlasiP34059. baseline and differential.
GenevestigatoriP34059.

Organism-specific databases

HPAiCAB026404.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi108860. 10 interactions.
STRINGi9606.ENSP00000268695.

Structurei

Secondary structure

1
522
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi32 – 409Combined sources
Helixi47 – 493Combined sources
Helixi57 – 648Combined sources
Beta strandi66 – 683Combined sources
Beta strandi70 – 734Combined sources
Beta strandi75 – 784Combined sources
Helixi79 – 8810Combined sources
Helixi92 – 954Combined sources
Helixi124 – 1285Combined sources
Helixi129 – 1313Combined sources
Beta strandi134 – 1396Combined sources
Helixi147 – 1493Combined sources
Helixi151 – 1533Combined sources
Beta strandi157 – 1615Combined sources
Beta strandi172 – 1754Combined sources
Beta strandi179 – 1824Combined sources
Beta strandi185 – 1906Combined sources
Turni191 – 1933Combined sources
Turni198 – 2003Combined sources
Helixi205 – 22016Combined sources
Turni221 – 2233Combined sources
Beta strandi226 – 2316Combined sources
Beta strandi236 – 2383Combined sources
Helixi243 – 2453Combined sources
Helixi252 – 27423Combined sources
Helixi278 – 2803Combined sources
Beta strandi281 – 2899Combined sources
Turni296 – 2983Combined sources
Beta strandi312 – 3143Combined sources
Helixi315 – 3184Combined sources
Beta strandi322 – 3254Combined sources
Turni327 – 3293Combined sources
Helixi344 – 35310Combined sources
Beta strandi359 – 3613Combined sources
Helixi369 – 3746Combined sources
Beta strandi382 – 3865Combined sources
Beta strandi389 – 3957Combined sources
Beta strandi398 – 4047Combined sources
Helixi409 – 4135Combined sources
Turni425 – 4273Combined sources
Beta strandi436 – 4383Combined sources
Beta strandi440 – 4434Combined sources
Turni444 – 4463Combined sources
Helixi459 – 47719Combined sources
Beta strandi485 – 4895Combined sources
Helixi491 – 4933Combined sources
Beta strandi494 – 4974Combined sources
Helixi501 – 5044Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4FDIX-ray2.20A/B27-522[»]
4FDJX-ray2.81A/B27-522[»]
ProteinModelPortaliP34059.
SMRiP34059. Positions 27-512.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni27 – 379353Catalytic domainAdd
BLAST

Sequence similaritiesi

Belongs to the sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG3119.
GeneTreeiENSGT00760000119062.
HOGENOMiHOG000135352.
HOVERGENiHBG004283.
InParanoidiP34059.
KOiK01132.
OMAiLTQVYLQ.
OrthoDBiEOG7QZG9J.
PhylomeDBiP34059.
TreeFamiTF314186.

Family and domain databases

Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR000917. Sulfatase.
IPR024607. Sulfatase_CS.
[Graphical view]
PfamiPF00884. Sulfatase. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 1 hit.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P34059-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAAVVAATRW WQLLLVLSAA GMGASGAPQP PNILLLLMDD MGWGDLGVYG
60 70 80 90 100
EPSRETPNLD RMAAEGLLFP NFYSANPLCS PSRAALLTGR LPIRNGFYTT
110 120 130 140 150
NAHARNAYTP QEIVGGIPDS EQLLPELLKK AGYVSKIVGK WHLGHRPQFH
160 170 180 190 200
PLKHGFDEWF GSPNCHFGPY DNKARPNIPV YRDWEMVGRY YEEFPINLKT
210 220 230 240 250
GEANLTQIYL QEALDFIKRQ ARHHPFFLYW AVDATHAPVY ASKPFLGTSQ
260 270 280 290 300
RGRYGDAVRE IDDSIGKILE LLQDLHVADN TFVFFTSDNG AALISAPEQG
310 320 330 340 350
GSNGPFLCGK QTTFEGGMRE PALAWWPGHV TAGQVSHQLG SIMDLFTTSL
360 370 380 390 400
ALAGLTPPSD RAIDGLNLLP TLLQGRLMDR PIFYYRGDTL MAATLGQHKA
410 420 430 440 450
HFWTWTNSWE NFRQGIDFCP GQNVSGVTTH NLEDHTKLPL IFHLGRDPGE
460 470 480 490 500
RFPLSFASAE YQEALSRITS VVQQHQEALV PAQPQLNVCN WAVMNWAPPG
510 520
CEKLGKCLTP PESIPKKCLW SH
Length:522
Mass (Da):58,026
Last modified:February 1, 1994 - v1
Checksum:i1D086E528AAAE949
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → M in MPS4A. 1 Publication
VAR_024873
Natural varianti16 – 161V → E in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071569
Natural varianti17 – 182Missing in MPS4A. 1 Publication
VAR_024874
Natural varianti23 – 231G → R in MPS4A. 1 Publication
VAR_024875
Natural varianti36 – 361L → P in MPS4A. 1 Publication
VAR_024876
Natural varianti36 – 361L → R in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071570
Natural varianti40 – 401D → N in MPS4A. 1 Publication
VAR_071571
Natural varianti41 – 411M → L in MPS4A. 1 Publication
VAR_024877
Natural varianti42 – 421G → E in MPS4A. 1 Publication
VAR_024878
Natural varianti47 – 471G → R in MPS4A; severe form.
VAR_007172
Natural varianti48 – 481V → G in MPS4A. 1 Publication
VAR_071572
Natural varianti51 – 511E → K in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071573
Natural varianti52 – 554Missing in MPS4A. 1 Publication
VAR_024879
Natural varianti53 – 531S → F in MPS4A. 1 Publication
VAR_024880
Natural varianti60 – 601D → N in MPS4A; mild form.
VAR_007173
Natural varianti61 – 611R → W in MPS4A. 2 Publications
VAR_024881
Natural varianti67 – 671L → M Associated with S-409 in a MPS4A patient. 1 Publication
Corresponds to variant rs11862754 [ dbSNP | Ensembl ].
VAR_007174
Natural varianti69 – 691F → V in MPS4A. 1 Publication
VAR_024882
Natural varianti71 – 744NFYS → T in MPS4A. 1 Publication
VAR_024883
Natural varianti74 – 741S → F.1 Publication
VAR_071574
Natural varianti77 – 771P → R in MPS4A; severe form. 3 Publications
VAR_007175
Natural varianti79 – 791C → Y in MPS4A. 1 Publication
VAR_024884
Natural varianti80 – 801S → L in MPS4A; intermediate form. 2 Publications
VAR_007177
Natural varianti81 – 811P → L in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071575
Natural varianti84 – 841A → E in MPS4A; loss of enzymatic activity. 1 Publication
VAR_071576
Natural varianti90 – 901R → W in MPS4A; severe form. 3 Publications
VAR_007178
Natural varianti91 – 911L → P in MPS4A; loss of enzymatic activity. 1 Publication
VAR_071577
Natural varianti94 – 941R → C in MPS4A; mild/intermediate form. 3 Publications
VAR_007179
Natural varianti94 – 941R → G in MPS4A; mild/intermediate form.
VAR_007180
Natural varianti94 – 941R → L in MPS4A. 2 Publications
VAR_024885
Natural varianti96 – 961G → C in MPS4A.
VAR_007181
Natural varianti96 – 961G → V in MPS4A; severe form. 3 Publications
VAR_007182
Natural varianti97 – 971F → V in MPS4A; mild form. 2 Publications
VAR_007183
Natural varianti107 – 1071A → T in MPS4A. 1 Publication
VAR_024886
Natural varianti111 – 1111Q → R in MPS4A; intermediate form.
VAR_007184
Natural varianti113 – 1131I → F in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry. 3 Publications
VAR_007185
Natural varianti116 – 1161G → S in MPS4A. 2 Publications
VAR_024887
Natural varianti116 – 1161G → V in MPS4A; reduced enzymatic activity. 1 Publication
VAR_071578
Natural varianti121 – 1211E → D.1 Publication
VAR_071579
Natural varianti125 – 1251P → L in MPS4A; severe form. 1 Publication
VAR_007186
Natural varianti135 – 1351S → R in MPS4A; severe form. 1 Publication
VAR_007187
Natural varianti138 – 1381V → A in MPS4A; mild/severe/intermediate form. 1 Publication
VAR_007188
Natural varianti139 – 1391G → S in MPS4A; severe form. 2 Publications