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Fig. 4 | Human Genomics

Fig. 4

From: Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Fig. 4

Conservation and position on the protein of the changed amino acid. a The red arrow shows the changed bp and the corresponding amino acid. NC_000003.11:g.124174121C>A (hg19), NM_003947.4:c.3644C>A:p.(Thr1215Lys). The area is very well conserved throughout the species. b Graph of the protein, showing the nine spectrin domains. The position of the changed aminoacid is represented by the red arrow (figure adapted from Vishwanatha et al. [26]). CRAL_TRIO CRAL-TRIO domain, SP spectrin domain, DH Dbl homology domain, PH Pleckstrin homology domain. SP domains in green are identified by Uniprot (http://www.uniprot.org/) and Interpro (http://www.ebi.ac.uk/interpro/). SP domains in blue are identified only by Interpro. SP domains in orange were identified after manual curation by Vishwanatha et al. [26]

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Human Genomics

ISSN: 1479-7364