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UniProtKB/Swiss-Prot O14979: Variant p.Asp378Asn

Heterogeneous nuclear ribonucleoprotein D-like
Gene: HNRNPDL
Variant information

Variant position:  378
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Aspartate (D) to Asparagine (N) at position 378 (D378N, p.Asp378Asn).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and acidic (D) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In LGMDD3.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  378
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  420
The length of the canonical sequence.

Location on the sequence:   YGNYNSAYGGDQNYSGYGGY  D YTGYNYGNYGYGQGYADYSG
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         YGNY--NSAYGGDQNYS-GYGGYDYTGYNYGNYGYGQGYADYSG

Mouse                         YGNY--NSAYGGDQNYS-GYGGYDYTGYNYGNYGYGQGYAD

Rat                           YGNY--NSAY-GDESYS-GYGGYDYTGYNYGSYGYGQGYTD

Chicken                       YGNY--NSAY-SDQSYS-GYGGYDYSGYNYPNYGYGPGYTD

Xenopus tropicalis            YGSYGNNGSY-ADQGYNNSYSGYDYSGYNYGSYGYNQGYTD

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 420 Heterogeneous nuclear ribonucleoprotein D-like
Region 342 – 420 Necessary for interaction with TNPO1
Compositional bias 323 – 411 Gly-rich
Compositional bias 353 – 396 Tyr-rich
Alternative sequence 341 – 397 Missing. In isoform 3.


Literature citations

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Vieira N.M.; Naslavsky M.S.; Licinio L.; Kok F.; Schlesinger D.; Vainzof M.; Sanchez N.; Kitajima J.P.; Gal L.; Cavacana N.; Serafini P.R.; Chuartzman S.; Vasquez C.; Mimbacas A.; Nigro V.; Pavanello R.C.; Schuldiner M.; Kunkel L.M.; Zatz M.;
Hum. Mol. Genet. 23:4103-4110(2014)
Cited for: INVOLVEMENT IN LGMDD3; VARIANTS LGMDD3 ASN-378 AND HIS-378;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.