Blood Group Database

033 LAN Blood Group

The LAN blood group system consists of one antigen carried on a multipass membrane protein (a.k.a. ATP-binding cassette, sub- family B, member 6 [ABCB6]) of 842 amino acids. ABCB6 is an ATPdependent transporter of porphyrins (including heme) and is localized in the golgi apparatus, lysosomes, and plasma membranes. The biologically active protein is a homodimer. ABCB6 is up regulated during erythroid maturation.

Antigens

[1] Lan

Reference Info

Gene: ABCB6
Allele: ABCB6. Acceptable: Lan, if inferred by haemagglutination
Seq: NG_032110.1

(genomic), NM_005689.2

(transcript)
Entrez GeneID: 10058

Number of exons: 17

ABCB6

Loading Data ...

allele_category	Phenotype	Allele Name	Nucleotide Changes	Exon	Amino Acid Changes	hg38	rsNum
5:Unclear Alleles	Lan ?		c.2383_2385del	Exon 1 Intron 1 Exon 6 Intron 1 Exon 18	p.Leu795del	chr2:219218654 chr2:219215038 chr2:219210267	rs1401023454
0:Antigen Alleles	Lan+	ABCB601*
4:Null Alleles	Lan-	ABCB601N.01*	c.197_198insG	Exon 1	p.Ala66Gly fs stop	chr2:219218477
4:Null Alleles	Lan-	ABCB601N.02*	c.717G>A	Exon 3	p.Gln239*	chr2:219216803	rs148458820
4:Null Alleles	Lan-	ABCB601N.03*	c.953_956delGTGG	Exon 4	p.Gly318fsX	chr2:219216381	rs755885095
4:Null Alleles	Lan-	ABCB601N.04*	c.1533_1543dupCGGCTCCCTGC	Exon 9	p.Leu515fsX	chr2:219213871	rs772078524
4:Null Alleles	Lan-	ABCB601N.05*	c.1709_1710delAG	Exon 11	p.Glu570fsX	chr2:219213449
4:Null Alleles	Lan-	ABCB601N.06*	c.1690_1691delAT	Exon 11	p.Met564fsX	chr2:219213468
4:Null Alleles	Lan-	ABCB601N.07*	c.1867delinsAACAGGTGA	Exon 14	p.Gly623fsX	chr2:219212488
4:Null Alleles	Lan-	ABCB601N.08*	c.1942C>T	Exon 14	p.Arg648*	chr2:219212413	rs376664522
4:Null Alleles	Lan-	ABCB601N.09*	c.1985_1986delTC	Exon 15	p.Leu662fsX	chr2:219211092	rs387906909
4:Null Alleles	Lan-	ABCB601N.10*	c.2256+2t>g	Intron 16 Intron 1	p.Splicing defect	chr2:219210709	rs1559234527
4:Null Alleles	Lan-	ABCB601N.11*	c.1236G>A	Exon 6	p.Trp412*	chr2:219215001	rs772387819
4:Null Alleles	Lan-	ABCB601N.12*	c.1558_1559insT	Exon 9	p.Val520fsX	chr2:219213846
4:Null Alleles	Lan-	ABCB601N.13*	c.574C>T	Exon 2	p.Arg192Trp	chr2:219217783	rs149202834
4:Null Alleles	Lan-	ABCB601N.14*	c.85_87delTTC	Exon 1	p.Phe29del	chr2:219218589	rs1281677761
4:Null Alleles	Lan-	ABCB601N.15*	c.376delG	Exon 1	p.Val126fsX	chr2:219218298	rs377591749
4:Null Alleles	Lan-	ABCB601N.16*	c.459delC	Exon 1	p.Leu154SerfsX97	chr2:219218215	rs755723161
4:Null Alleles	Lan-	ABCB601N.17*	c.IVS16+1G>A	Intron 1 Intron 1	Splicing defect	chr2:219218657
4:Null Alleles	Lan-	ABCB601N.18*	c.296_301insG	Exon 1	p.Ala101GlyfsX61	chr2:219218378
4:Null Alleles	Lan-	ABCB601N.19*	c.718C>T	Exon 3	p.Arg240*	chr2:219216802	rs766607263
4:Null Alleles	Lan-	ABCB601N.20*	c.IVS3-2A>G		Splicing defect	chr2:219218673
4:Null Alleles	Lan-	ABCB601N.21*	c.1199_1210delTTGGCATCATCT	Exon 6	p.Ile400_Tyr404delinsAsn	chr2:219215038
4:Null Alleles	Lan-	ABCB601N.22*	c.2383_2385delCTC	Exon 18	p.Leu795del	chr2:219210267
4:Null Alleles	Lan-	ABCB601N.23*	c.20A>G c.403C>A c.459delC	Exon 1 Exon 1 Exon 1	p.Tyr7Cys, p.Arg135Ser, p.Leu154SerfsX97	chr2:219218654 chr2:219218271 chr2:219218215	rs1401023454 rs202232534 rs755723161
4:Null Alleles	Lan-	ABCB601N.24*	c.296_301insG c.459delC	Exon 1 Exon 1	p.Ala101GlyfsX61, p.Leu154SerfsX97	chr2:219218378 chr2:219218215	rs755723161
4:Null Alleles	Lan-	ABCB601N.25*	c.459delC c.881_884delCTGA	Exon 1 Exon 4	p.Leu154SerfsX97, p.Thr294ArgfsX31	chr2:219218215 chr2:219216453	rs755723161
4:Null Alleles	Lan-	ABCB601N.26*	c.459delC c.1617delG	Exon 1 Exon 10	p.Leu154SerfsX97, p.Gly539HisfsX15	chr2:219218215 chr2:219213628	rs755723161 rs144895244
4:Null Alleles	Lan-	ABCB601N.27*	c.459delC IVS16+1G>A	Intron 1 Exon 1 Intron 1	p.Leu154SerfsX97, Splicing defect	chr2:219218657 chr2:219218215	rs755723161
4:Null Alleles	Lan-	ABCB601N.28*	c.1A>C	Exon 1	p.0	chr2:219218673	rs770340675
4:Null Alleles	Lan-	ABCB601N.29*	c.827G>A	Exon 3	p.Arg276Glu	chr2:219216693	rs200125320
4:Null Alleles	Lan-	ABCB601N.30*	c.971-1G>A	Intron 4	r.spl?	chr2:219216181	rs1450661565
4:Null Alleles	Lan-	ABCB601N.31*	c.1825G>A	Exon 13	p.Val609Met	chr2:219213046	rs374541848
4:Null Alleles	Lan-	ABCB601N.32*	c.1912C>T	Exon 14	p.Arg638Cys	chr2:219212443	rs761968111
4:Null Alleles	Lan-	ABCB601N.33*	c.2155C>T	Exon 16	p.Glu719*	chr2:219210812
4:Null Alleles	Lan-	ABCB601N.35*	c.2351+1G>A	Intron 17	r.spl?	chr2:219210380	rs150574070
4:Null Alleles	Lan-	ABCB601N.36*	c.1118_1124delCGGATCG	Exon 5	p.Ala373Glyfs*47	chr2:219216033	rs765925019
4:Null Alleles	Lan-	ABCB601N.37*	c.1656-1G>A	Intron 10	r.spl?	chr2:219213503	rs879255549
1:Weak Alleles	Lan weak	ABCB601W.01*	c.826C>T	Exon 3	p.Arg276Trp	chr2:219216694	rs57467915
1:Weak Alleles	Lan weak	ABCB601W.02*	c.1028G>A	Exon 5	p.Arg343Gln	chr2:219216123	rs60322991
1:Weak Alleles	Lan weak	ABCB601W.03*	c.1762G>A	Exon 12	p.Gly588Ser	chr2:219213284	rs145526996
1:Weak Alleles	Lan weak	ABCB601W.04*	c.2216G>A	Exon 16	p.Arg739His	chr2:219210751	rs192931087
1:Weak Alleles	Lan weak	ABCB601W.05*	c.317A>G	Exon 1	p.Tyr106Cys	chr2:219218357	rs377474593
1:Weak Alleles	Lan weak	ABCB601W.06*	c.2206G>C	Exon 16	p.Ala736Pro	chr2:219210761
1:Weak Alleles	Lan weak	ABCB601W.07*	c.403C>A	Exon 1	p.Arg135Ser	chr2:219218271	rs202232534