NPC1 c.1415T>C ;(p.L472P)

Variant ID: 18-21134860-A-G

NM_000271.4(NPC1):c.1415T>C;(p.L472P)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas
Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M
Publication Date: 2022-01-27

Variant appearance in text: NPC1: Leu472Pro
PubMed Link: 35086560
Variant Present in the following documents:
  • Main text
  • 41065_2022_Article_224.pdf
View BVdb publication page



Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas
Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M
Publication Date: 2022-01-27

Variant appearance in text: NPC1: Leu472Pro
PubMed Link: 35086560
Variant Present in the following documents:
  • Main text
  • 41065_2022_Article_224.pdf
View BVdb publication page



Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain.

Plos Computational Biology
Dubey, Vikas V; Bozorg, Behruz B; Wüstner, Daniel D; Khandelia, Himanshu H
Publication Date: 2020-10

Variant appearance in text: NPC1: L472P
PubMed Link: 33021976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport.

Journal Of Neurochemistry
Yoon, Hye-Jin HJ; Jeong, Hyunah H; Lee, Hyung Ho HH; Jang, Soonmin S
Publication Date: 2021-03

Variant appearance in text: NPC1: L472P
PubMed Link: 32880929
Variant Present in the following documents:
  • JNC-9999-na.pdf
View BVdb publication page



Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

International Journal Of Molecular Sciences
Seker Yilmaz, Berna B; Baruteau, Julien J; Rahim, Ahad A AA; Gissen, Paul P
Publication Date: 2020-07-17

Variant appearance in text: NPC1: 1415T>C; L472P
PubMed Link: 32709131
Variant Present in the following documents:
  • Main text
  • ijms-21-05059.pdf
View BVdb publication page



Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.

Medical Journal Of The Islamic Republic Of Iran
Zahedi Abghari, Fateme F; Bayat, Fatemeh F; Razipour, Masoumeh M; Karimipoor, Morteza M; Taghavi-Basmenj, Maryam M; Zeinali, Sirous S; Davoudi-Dehaghani, Elham E
Publication Date: 2019

Variant appearance in text: NPC1: 1415T>C; Leu472Pro
PubMed Link: 32280632
Variant Present in the following documents:
  • Main text
  • mjiri-33-126.pdf
View BVdb publication page



Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.

Nature Communications
Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE
Publication Date: 2019-11-07

Variant appearance in text: NPC1: L472P
PubMed Link: 31699992
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_12969.pdf
View BVdb publication page



Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.

Human Molecular Genetics
Wang, Chao C; Scott, Samantha M SM; Sun, Shuhong S; Zhao, Pei P; Hutt, Darren M DM; Shao, Hao H; Gestwicki, Jason E JE; Balch, William E WE
Publication Date: 2020-01-01

Variant appearance in text: NPC1: L472P
PubMed Link: 31509197
Variant Present in the following documents:
  • Main text
View BVdb publication page



Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.

Iranian Journal Of Child Neurology
Hashemian, Somayyeh S; Eshraghi, Peyman P; Dilaver, Nafi N; Galehdari, Hamid H; Shalbafan, Bita B; Vakili, Rahim R; Ghaemi, Nosrat N; Ahangari, Najmeh N; Rezazadeh Varaghchi, Jamileh J; Zeighami, Jawaher J; Sedaghat, Alireza A; Aminzadeh, Majid M; Hamid, Mohammad M; Saberi, Alihossein A; Ashtari, Fereshteh F; Ghayoor Karimiani, Ehsan E; Shariati, Gholamreza G
Publication Date: 2019

Variant appearance in text: NPC1: 1415T>C; Leu472Pro
PubMed Link: 31037088
Variant Present in the following documents:
  • Main text
  • ijcn-13-155.pdf
View BVdb publication page



The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran.

Iranian Journal Of Child Neurology
Noroozi Asl, Samaneh S; Vakili, Rahim R; Ghaemi, Nosrat N; Eshraghi, Peyman P
Publication Date: 2017

Variant appearance in text: NPC1: 1415T>C; Leu472Pro
PubMed Link: 28883878
Variant Present in the following documents:
  • Main text
  • ijcn-11-053.pdf
View BVdb publication page



Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.

Journal Of Lipid Research
Pipalia, Nina H NH; Subramanian, Kanagaraj K; Mao, Shu S; Ralph, Harold H; Hutt, Darren M DM; Scott, Samantha M SM; Balch, William E WE; Maxfield, Frederick R FR
Publication Date: 2017-04

Variant appearance in text: NPC1: L472P
PubMed Link: 28193631
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: NPC1: L472P
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: NPC1: L472P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page