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:
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-GYGGY DYTGYNYGNYGYGQGYADYSG
Mouse YGNY--NSAYGGDQNYS-GYGGY DYTGYNYGNYGYGQGYAD
Rat YGNY--NSAY-GDESYS-GYGGY DYTGYNYGSYGYGQGYTD
Chicken YGNY--NSAY-SDQSYS-GYGGY DYSGYNYPNYGYGPGYTD
Xenopus tropicalis YGSYGNNGSY-ADQGYNNSYSGY DYSGYNYGSYGYNQGYTD
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.
Type Positions Description
1 – 420 Heterogeneous nuclear ribonucleoprotein D-like
342 – 420 Necessary for interaction with TNPO1
323 – 411 Gly-rich
353 – 396 Tyr-rich
341 – 397 Missing. In isoform 3.
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;
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.