UniProtKB/SwissProt variant VAR

Ceroid-lipofuscinosis neuronal protein 6
Gene: CLN6
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Variant information Variant position:

72
Type of variant:

LB/B
Residue change:

From Glutamate (E) to Glutamine (Q) at position 72 (E72Q, p.Glu72Gln).
Physico-chemical properties:

Change from medium size and acidic (E) to medium size and polar (Q)
BLOSUM score:

2
Other resources:

Variant rs104894483 [ dbSNP | Ensembl ]

Sequence information Variant position:

72
Protein sequence length:

311
Location on the sequence:

TLQNWVLDFGRPIAMLVFPL E WFPLNKPSVGDYFHMAYNVI
Residue conservation:

Human                         TLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVI

                              TLQNWVLDFGRPIAMLVFPLEWFPLNKPSVGDYFHMAYNII

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 311	Ceroid-lipofuscinosis neuronal protein 6
Transmembrane	56 – 76	Helical

Literature citations
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
Sharp J.D.; Wheeler R.B.; Parker K.A.; Gardiner R.M.; Williams R.E.; Mole S.E.;
Hum. Mutat. 22:35-42(2003)
Cited for: VARIANTS CLN6 HIS-62; SER-221; THR-241; SER-265 DEL AND LEU-299; VARIANT GLN-72; Analysis of protein-coding genetic variation in 60,706 humans.
Lek M.; Karczewski K.J.; Minikel E.V.; Samocha K.E.; Banks E.; Fennell T.; O'Donnell-Luria A.H.; Ware J.S.; Hill A.J.; Cummings B.B.; Tukiainen T.; Birnbaum D.P.; Kosmicki J.A.; Duncan L.E.; Estrada K.; Zhao F.; Zou J.; Pierce-Hoffman E.; Berghout J.; Cooper D.N.; Deflaux N.; DePristo M.; Do R.; Flannick J.; Fromer M.; Gauthier L.; Goldstein J.; Gupta N.; Howrigan D.; Kiezun A.; Kurki M.I.; Moonshine A.L.; Natarajan P.; Orozco L.; Peloso G.M.; Poplin R.; Rivas M.A.; Ruano-Rubio V.; Rose S.A.; Ruderfer D.M.; Shakir K.; Stenson P.D.; Stevens C.; Thomas B.P.; Tiao G.; Tusie-Luna M.T.; Weisburd B.; Won H.H.; Yu D.; Altshuler D.M.; Ardissino D.; Boehnke M.; Danesh J.; Donnelly S.; Elosua R.; Florez J.C.; Gabriel S.B.; Getz G.; Glatt S.J.; Hultman C.M.; Kathiresan S.; Laakso M.; McCarroll S.; McCarthy M.I.; McGovern D.; McPherson R.; Neale B.M.; Palotie A.; Purcell S.M.; Saleheen D.; Scharf J.M.; Sklar P.; Sullivan P.F.; Tuomilehto J.; Tsuang M.T.; Watkins H.C.; Wilson J.G.; Daly M.J.; MacArthur D.G.;
Nature 536:285-291(2016)
Cited for: VARIANT GLN-72;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NWW5: Variant p.Glu72Gln