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Table 1 Variants observed in the HBD gene in the Iranian population, based on Iranome project (http://www.iranome.ir/)

From: In silico prediction of HBD gene variants in the Iranian population

Variant genomic position/rs ID

Transcript/protein consequence

ClinVar

Ethnicity

Reported in ITHANET

Reported in HbVar

Exon/intron

Allele frequency (%)

11:5254244 G/C

c.394C>G/p.Gln132Glu

NR

Kurd

Yes/causative

Yes

Exon 3

1/1600 (0.06)

11:5254398 A/G (rs200027473)

c.316-76 T>C

NR

Turkmen

No

No

Intron 2

1/1600 (0.06)

11:5255166 C/A (rs1589897475)

c.315+55G>T

NR

Azeri

No

No

Intron 2

1/1600 (0.06)

11:5255377 A/C (rs757106601)

c.159 T>G/p.Asp53Glu

NR

Arab

No

No

Exon 2

1/1600 (0.06)

11:5255477 G/A (rs149402829)

c.93-34C>T

NR

Azeri

No

No

Intron 1

1/1600 (0.06)

11:5255529 T/C

c.92+43A>G

NR

Kurd

No

No

Intron 1

1/1600 (0.06)

11:5255574 G/A (rs1223305519)

c.90C>T/p.Gly30=

NR

Arab

No

No

Exon 1

1/1600 (0.06)

11:5255615 C/G (rs34012192)

c.49G>C/p.Gly17Arg

Other

Persian Gulf Islander

Yes/causative

Yes

Exon 1

1/1600 (0.06)

11:5254402 C/T (rs374210782)

c.316-80G>A

NR

Baloch

No

No

Intron 2

2/1598 (0.13)

11:5254424 T/C (rs73400693)

c.316-102A>G

NR

Baloch, Persian Gulf Islander

No

No

Intron 2

2/1590 (0.13)

11:5255022 T/C (rs181334077)

c.315+199A>G

NR

Baloch

No

No

Intron 2

1/716 (0.14)

11:5255075 A/C (rs77044643)

c.315+146T>G

NR

Baloch, Persian Gulf Islander

No

No

Intron 2

2/1118 (0.18)

11:5254354 A/G (rs73400692)

c.316-32T>C

NR

Baloch, Persian Gulf Islander, Turkmen

No

No

Intron 2

3/1600 (0.19)

11:5255650 G/A (rs35406175)

c.14C>T/p.Thr5Ile

Uncertain significance

Multiple

Yes/causative

No

Exon 1

6/1600 (0.38)

11:5255242 G/A (rs61746501)

c.294C>T/p.His98=

Benign

Multiple

No

No

Exon 2

9/1600 (0.56)

11:5255582 C/A (rs35152987)

c.82G>T/p.Ala28Ser

Conflicting interpretations

Multiple

Yes/causative

Yes

Exon 1

9/1600 (0.56)

  1. Human genome reference: hg19/GRCh37; gene reference sequence: NG_063112.2; mRNA reference sequence: NM_000519.4; UniProtKB/Swiss-Prot: P02042.2
  2. NR not reported, NA not available