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Mutation:

MSH6 R58K

Summary

Isoform:
NM_001281492
Position:
58
Ref:
R
Mutation:
K
PTM impact:
network-rewiring
PTM affected:
3
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 51S

Affected site:

Position: 51
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
45S P[G/S]GGDAAWSEAGPGPR 6
distal
45R P[G/R]GGDAAWSEAGPGPR 6
distal
45A P[G/A]GGDAAWSEAGPGPR 6
distal
45V P[G/V]GGDAAWSEAGPGPR 6
distal
46R PG[G/R]GDAAWSEAGPGPR 5
distal
46E PG[G/E]GDAAWSEAGPGPR 5
distal
48T PGGD[A/T]AAWSEAGPGPR 3
distal
48P PGGD[A/P]AAWSEAGPGPR 3
distal
48G PGGD[A/G]AAWSEAGPGPR 3
distal
48V PGGD[A/V]AAWSEAGPGPR 3
distal
49V PGGDA[A/V]AWSEAGPGPR 2
proximal
50R PGGDAA[W/R]WSEAGPGPR 1
proximal
50C PGGDAA[W/C]WSEAGPGPR 1
proximal
51G PGGDAAW[S/G]SEAGPGPR 0
direct
51I PGGDAAW[S/I]SEAGPGPR 0
direct
51R PGGDAAW[S/R]SEAGPGPR 0
direct
52K PGGDAAWS[E/K]EAGPGPR 1
proximal
52Q PGGDAAWS[E/Q]EAGPGPR 1
network-rewiring
52V PGGDAAWS[E/V]EAGPGPR 1
proximal
53D PGGDAAWSE[A/D]AGPGPR 2
proximal
54A PGGDAAWSEA[G/A]GPGPR 3
distal
55H PGGDAAWSEAG[P/H]PGPR 4
distal
55L PGGDAAWSEAG[P/L]PGPR 4
distal
56R PGGDAAWSEAGP[G/R]GPR 5
distal
56W PGGDAAWSEAGP[G/W]GPR 5
distal
56E PGGDAAWSEAGP[G/E]GPR 5
distal
57A PGGDAAWSEAGPG[P/A]PR 6
distal
57S PGGDAAWSEAGPG[P/S]PR 6
distal
57R PGGDAAWSEAGPG[P/R]PR 6
distal
57L PGGDAAWSEAGPG[P/L]PR 6
distal

PTM Site: 63S

Affected site:

Position: 63
Residue: S
Type: phosphorylation

Only loss of PTM site:

AKT1 (probability p=0.941)
Site: 63S (phosphorylation)
Position in motif: -5

Other known mutations affecting this site

Mutation In sequence Distance Impact
57A G[P/A]PRPLARSASPPKAK 6
distal
57S G[P/S]PRPLARSASPPKAK 6
distal
57R G[P/R]PRPLARSASPPKAK 6
distal
57L G[P/L]PRPLARSASPPKAK 6
distal
58G GP[R/G]RPLARSASPPKAK 5
network-rewiring
58K GP[R/K]RPLARSASPPKAK 5
network-rewiring
59T GPR[P/T]PLARSASPPKAK 4
distal
59S GPR[P/S]PLARSASPPKAK 4
distal
60V GPRP[L/V]LARSASPPKAK 3
distal
61V GPRPL[A/V]ARSASPPKAK 2
proximal
62S GPRPLA[R/S]RSASPPKAK 1
proximal
62C GPRPLA[R/C]RSASPPKAK 1
proximal
62H GPRPLA[R/H]RSASPPKAK 1
proximal
62P GPRPLA[R/P]RSASPPKAK 1
proximal
62L GPRPLA[R/L]RSASPPKAK 1
proximal
63T GPRPLAR[S/T]SASPPKAK 0
direct
63P GPRPLAR[S/P]SASPPKAK 0
direct
63A GPRPLAR[S/A]SASPPKAK 0
direct
63Y GPRPLAR[S/Y]SASPPKAK 0
direct
63C GPRPLAR[S/C]SASPPKAK 0
direct
64T GPRPLARS[A/T]ASPPKAK 1
proximal
64P GPRPLARS[A/P]ASPPKAK 1
network-rewiring
64E GPRPLARS[A/E]ASPPKAK 1
proximal
65A GPRPLARSA[S/A]SPPKAK 2
proximal
65L GPRPLARSA[S/L]SPPKAK 2
proximal
66A GPRPLARSAS[P/A]PPKAK 3
distal
66Q GPRPLARSAS[P/Q]PPKAK 3
distal
66R GPRPLARSAS[P/R]PPKAK 3
distal
66L GPRPLARSAS[P/L]PPKAK 3
distal
67T GPRPLARSASP[P/T]PKAK 4
distal
67S GPRPLARSASP[P/S]PKAK 4
distal
67L GPRPLARSASP[P/L]PKAK 4
distal
68R GPRPLARSASPP[K/R]KAK 5
distal
69T GPRPLARSASPPK[A/T]AK 6
distal
69V GPRPLARSASPPK[A/V]AK 6
distal
63F GPRPLAR[S/F]SASPPKAK 0
direct

PTM Site: 65S

Affected site:

Position: 65
Residue: S
Type: phosphorylation, phosphorylation (SARS-CoV-2)

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
59T R[P/T]PLARSASPPKAKNL 6
distal
59S R[P/S]PLARSASPPKAKNL 6
distal
60V RP[L/V]LARSASPPKAKNL 5
distal
61V RPL[A/V]ARSASPPKAKNL 4
distal
62S RPLA[R/S]RSASPPKAKNL 3
network-rewiring
62C RPLA[R/C]RSASPPKAKNL 3
network-rewiring
62H RPLA[R/H]RSASPPKAKNL 3
network-rewiring
62P RPLA[R/P]RSASPPKAKNL 3
network-rewiring
62L RPLA[R/L]RSASPPKAKNL 3
network-rewiring
63T RPLAR[S/T]SASPPKAKNL 2
proximal
63P RPLAR[S/P]SASPPKAKNL 2
proximal
63A RPLAR[S/A]SASPPKAKNL 2
proximal
63Y RPLAR[S/Y]SASPPKAKNL 2
proximal
63C RPLAR[S/C]SASPPKAKNL 2
proximal
64T RPLARS[A/T]ASPPKAKNL 1
proximal
64P RPLARS[A/P]ASPPKAKNL 1
proximal
64E RPLARS[A/E]ASPPKAKNL 1
proximal
65A RPLARSA[S/A]SPPKAKNL 0
direct
65L RPLARSA[S/L]SPPKAKNL 0
direct
66A RPLARSAS[P/A]PPKAKNL 1
network-rewiring
66Q RPLARSAS[P/Q]PPKAKNL 1
network-rewiring
66R RPLARSAS[P/R]PPKAKNL 1
network-rewiring
66L RPLARSAS[P/L]PPKAKNL 1
network-rewiring
67T RPLARSASP[P/T]PKAKNL 2
proximal
67S RPLARSASP[P/S]PKAKNL 2
proximal
67L RPLARSASP[P/L]PKAKNL 2
proximal
68R RPLARSASPP[K/R]KAKNL 3
distal
69T RPLARSASPPK[A/T]AKNL 4
distal
69V RPLARSASPPK[A/V]AKNL 4
distal
70E RPLARSASPPKA[K/E]KNL 5
distal
71H RPLARSASPPKAK[N/H]NL 6
distal
71D RPLARSASPPKAK[N/D]NL 6
distal
71T RPLARSASPPKAK[N/T]NL 6
distal
63F RPLAR[S/F]SASPPKAKNL 2
proximal

External references

dbSNP:
rs1064795187

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