Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 6589 | 19990;19991;19992 | chr2:178727813;178727812;178727811 | chr2:179592540;179592539;179592538 |
N2AB | 6272 | 19039;19040;19041 | chr2:178727813;178727812;178727811 | chr2:179592540;179592539;179592538 |
N2A | 5345 | 16258;16259;16260 | chr2:178727813;178727812;178727811 | chr2:179592540;179592539;179592538 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
Novex-3 | None | None | chr2:None | chr2:None |
SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/C | rs1206769574 | -0.79 | 0.999 | N | 0.345 | 0.332 | 0.321108458156 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
S/C | rs1206769574 | -0.79 | 0.999 | N | 0.345 | 0.332 | 0.321108458156 | gnomAD-4.0.0 | 6.84978E-07 | None | None | None | None | N | None | 2.99365E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
S/Y | None | None | 0.996 | N | 0.428 | 0.386 | 0.504907739247 | gnomAD-4.0.0 | 6.84978E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00182E-07 | 0 | 0 |
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S/A | 0.1 | likely_benign | 0.0929 | benign | -0.721 | Destabilizing | 0.061 | N | 0.133 | neutral | N | 0.471794002 | None | None | N |
S/C | 0.2076 | likely_benign | 0.1936 | benign | -0.496 | Destabilizing | 0.999 | D | 0.345 | neutral | N | 0.479204873 | None | None | N |
S/D | 0.5186 | ambiguous | 0.463 | ambiguous | -0.201 | Destabilizing | 0.969 | D | 0.341 | neutral | None | None | None | None | N |
S/E | 0.6323 | likely_pathogenic | 0.5894 | pathogenic | -0.248 | Destabilizing | 0.969 | D | 0.35 | neutral | None | None | None | None | N |
S/F | 0.3948 | ambiguous | 0.3188 | benign | -1.113 | Destabilizing | 0.996 | D | 0.435 | neutral | N | 0.490725763 | None | None | N |
S/G | 0.136 | likely_benign | 0.1213 | benign | -0.906 | Destabilizing | 0.02 | N | 0.135 | neutral | None | None | None | None | N |
S/H | 0.5393 | ambiguous | 0.4923 | ambiguous | -1.441 | Destabilizing | 0.999 | D | 0.346 | neutral | None | None | None | None | N |
S/I | 0.4052 | ambiguous | 0.3421 | ambiguous | -0.345 | Destabilizing | 0.982 | D | 0.434 | neutral | None | None | None | None | N |
S/K | 0.7956 | likely_pathogenic | 0.7437 | pathogenic | -0.665 | Destabilizing | 0.939 | D | 0.342 | neutral | None | None | None | None | N |
S/L | 0.1787 | likely_benign | 0.1456 | benign | -0.345 | Destabilizing | 0.939 | D | 0.43 | neutral | None | None | None | None | N |
S/M | 0.3068 | likely_benign | 0.2748 | benign | 0.043 | Stabilizing | 0.997 | D | 0.348 | neutral | None | None | None | None | N |
S/N | 0.2618 | likely_benign | 0.2157 | benign | -0.516 | Destabilizing | 0.969 | D | 0.379 | neutral | None | None | None | None | N |
S/P | 0.9017 | likely_pathogenic | 0.8983 | pathogenic | -0.439 | Destabilizing | 0.988 | D | 0.333 | neutral | N | 0.490218784 | None | None | N |
S/Q | 0.6263 | likely_pathogenic | 0.6085 | pathogenic | -0.781 | Destabilizing | 0.997 | D | 0.371 | neutral | None | None | None | None | N |
S/R | 0.7315 | likely_pathogenic | 0.6656 | pathogenic | -0.476 | Destabilizing | 0.991 | D | 0.347 | neutral | None | None | None | None | N |
S/T | 0.1018 | likely_benign | 0.0883 | benign | -0.599 | Destabilizing | 0.061 | N | 0.129 | neutral | N | 0.469465773 | None | None | N |
S/V | 0.3285 | likely_benign | 0.2953 | benign | -0.439 | Destabilizing | 0.939 | D | 0.426 | neutral | None | None | None | None | N |
S/W | 0.5907 | likely_pathogenic | 0.5484 | ambiguous | -1.044 | Destabilizing | 0.999 | D | 0.512 | neutral | None | None | None | None | N |
S/Y | 0.338 | likely_benign | 0.2768 | benign | -0.792 | Destabilizing | 0.996 | D | 0.428 | neutral | N | 0.478951384 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.