Table 2 Summary of novel mutations identified in this study.

From: A complete Leishmania donovani reference genome identifies novel genetic variations associated with virulence

Chr

Gene

Mutation

PROVEAN

Protein Name

7

LdBPK_070700 LdCL_070011900

Ala282Val

−0.743

vacuolar-type Ca2 ± ATPase, putative

12

LdBPK_120275 LdCL_120008300

Glu1157Asp

−0.258

Myotubularin-related protein, putative

14

LdCL_140017600

Ser2919fs

N/A

kinesin k39

14

LdBPK_141190 LdCL_140017700

Glu1034Asp

−1.06

kinesin K39

22

LdBPK_220840 LdCL_220015800

Pro219F/S

N/A

hypothetical protein

23

LdCL_230017500

INS:446Glua

−12.453

sucrose hydrolase-like protein

25

LdBPK_250620 LdCL_250011400

Ala969Glu

0.736

Raptor N-terminal CASPase like domain containing protein

25

LdBPK_250790 LdCL_250013200

INS :110 Ala, Asn, Ser, Ala, Ala, Ala, Ala

N/A

hypothetical protein

27

LdBPK_270830 LdCL_270014900

Ala1493Thr

−0.25

ATP-binding cassette protein subfamily A

29

LdCL_290028400

Thr208Ala

0.4

VIT family putative

301

LdBPK_301640 LdCL_300021700

Gln334STOPa

N/A

hypothetical protein

31

LdBPK_311390 LdCL_310020800

STOP1486Leu,Ser,His

0

hypothetical protein

31

LdBPK_311470 LdCL_310021600

Thr498Alaa

−0.15

hypothetical protein

31

LdBPK_311470 LdCL_310021600

His497Arga

0.942

hypothetical protein

31

LdBPK_311470 LdCL_310021600

Gly380Aspa

−0.383

hypothetical protein

IV → VL mutations

23

LdBPK_230830 LdCL_230014900

Asp712Glu

−1.625

hypothetical protein, unknown function

31

LdBPK_312870 LdCL_310037100

Met189Thr

−4

hypothetical protein, unknown function

31

LdBPK_313290 LdCL_310041200

Val187Phe

−0.634

Hypothetical protein

34

LdBPK_342210 LdCL_340029800

Thr116DEL

−1.098

hypothetical protein

IV-Only mutations

14

LdBPK_140470 LdCL_140010000

Gln89Lys

−0.044

cystathionine beta-lyase-like protein

31

LdBPK_312810 LdCL_310036400

Cys173Phe

−9.5

regulator of chromosome condensation (RCC1) repeat, putative

32

LdBPK_312770 LdCL_310035800

Gly667Ser

−1.292

hypothetical protein

32

LdBPK_324000 LdCL_320046000

Val250Ile

0

hypothetical protein, unknown function

36

LdBPK_361580 LdCL_360021300

Gene deletion

N/A

Serine/Threonine Kinase, putative

36

LdBPK_361590 LdCL_360021400

Gene deletion

N/A

Serine/Threonine Kinase, putative

36

LdBPK_361600 LdCL_360021500

Gene deletion

N/A

Engulfment and cell motility domain 2, putative

36

LdBPK_361610 LdCL_360021600

Gene deletion

N/A

Predicted tripartite motif protein

  1. All mutations are annotated using VL as the wild type amino acids and CL as the mutated amino acids. Genes with annotations in the previous assembly list the previous gene ID in italic, genes annotated only in this assembly list only one gene ID. The top segment lists fifteen attenuated cutaneous strain specific mutations identified in this study. Mutations marked witha appear at 50% but also co-occur with gene duplication event and are therefore possibly homozygous on one copy. ‘INS’ denotes amino acid insertions, ‘F/S’ denotes frameshifts, ‘DEL’ denotes amino acid deletions. The middle segment lists four mutations where the gain-of-function IV strain’s genotype changed towards that of the visceral genotype. The bottom segment lists eight mutations present only in the gain-of-function IV strain and likely represents adaptations specific to the murine host. Calculated PROVEAN scores are shown in the fourth column, scores below the −2.5 threshold for deleterious mutations are highlighted in bold25.