Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30704 | 92335;92336;92337 | chr2:178549612;178549611;178549610 | chr2:179414339;179414338;179414337 |
| N2AB | 29063 | 87412;87413;87414 | chr2:178549612;178549611;178549610 | chr2:179414339;179414338;179414337 |
| N2A | 28136 | 84631;84632;84633 | chr2:178549612;178549611;178549610 | chr2:179414339;179414338;179414337 |
| N2B | 21639 | 65140;65141;65142 | chr2:178549612;178549611;178549610 | chr2:179414339;179414338;179414337 |
| Novex-1 | 21764 | 65515;65516;65517 | chr2:178549612;178549611;178549610 | chr2:179414339;179414338;179414337 |
| Novex-2 | 21831 | 65716;65717;65718 | chr2:178549612;178549611;178549610 | chr2:179414339;179414338;179414337 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1170214077  |
-0.474 | 0.669 | N | 0.563 | 0.186 | 0.378847511475 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66058E-04 |
| R/G | rs1170214077 |
-0.474 | 0.669 | N | 0.563 | 0.186 | 0.378847511475 | gnomAD-4.0.0 | 6.84263E-07 | None | None | None | None | I | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/W | None | None | 0.997 | N | 0.679 | 0.37 | 0.403752378121 | gnomAD-4.0.0 | 2.73705E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59817E-06 | 0 | 0 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3768 | ambiguous | 0.39 | ambiguous | 0.029 | Stabilizing | 0.525 | D | 0.535 | neutral | None | None | None | None | I |
| R/C | 0.1688 | likely_benign | 0.1937 | benign | -0.22 | Destabilizing | 0.998 | D | 0.597 | neutral | None | None | None | None | I |
| R/D | 0.6134 | likely_pathogenic | 0.6261 | pathogenic | -0.207 | Destabilizing | 0.842 | D | 0.636 | neutral | None | None | None | None | I |
| R/E | 0.3321 | likely_benign | 0.3575 | ambiguous | -0.163 | Destabilizing | 0.688 | D | 0.505 | neutral | None | None | None | None | I |
| R/F | 0.4667 | ambiguous | 0.4819 | ambiguous | -0.282 | Destabilizing | 0.991 | D | 0.6 | neutral | None | None | None | None | I |
| R/G | 0.297 | likely_benign | 0.3143 | benign | -0.121 | Destabilizing | 0.669 | D | 0.563 | neutral | N | 0.49279371 | None | None | I |
| R/H | 0.107 | likely_benign | 0.1169 | benign | -0.616 | Destabilizing | 0.991 | D | 0.584 | neutral | None | None | None | None | I |
| R/I | 0.245 | likely_benign | 0.2492 | benign | 0.381 | Stabilizing | 0.974 | D | 0.603 | neutral | None | None | None | None | I |
| R/K | 0.0945 | likely_benign | 0.1008 | benign | -0.122 | Destabilizing | 0.022 | N | 0.125 | neutral | N | 0.392669575 | None | None | I |
| R/L | 0.229 | likely_benign | 0.2309 | benign | 0.381 | Stabilizing | 0.842 | D | 0.621 | neutral | None | None | None | None | I |
| R/M | 0.2575 | likely_benign | 0.2744 | benign | -0.037 | Destabilizing | 0.989 | D | 0.613 | neutral | N | 0.475768175 | None | None | I |
| R/N | 0.5358 | ambiguous | 0.5595 | ambiguous | 0.011 | Stabilizing | 0.842 | D | 0.555 | neutral | None | None | None | None | I |
| R/P | 0.375 | ambiguous | 0.3703 | ambiguous | 0.282 | Stabilizing | 0.974 | D | 0.609 | neutral | None | None | None | None | I |
| R/Q | 0.1018 | likely_benign | 0.1116 | benign | -0.051 | Destabilizing | 0.842 | D | 0.623 | neutral | None | None | None | None | I |
| R/S | 0.4725 | ambiguous | 0.4894 | ambiguous | -0.225 | Destabilizing | 0.051 | N | 0.286 | neutral | N | 0.431881324 | None | None | I |
| R/T | 0.2717 | likely_benign | 0.2887 | benign | -0.067 | Destabilizing | 0.669 | D | 0.575 | neutral | N | 0.397403391 | None | None | I |
| R/V | 0.3149 | likely_benign | 0.3284 | benign | 0.282 | Stabilizing | 0.842 | D | 0.635 | neutral | None | None | None | None | I |
| R/W | 0.1783 | likely_benign | 0.2032 | benign | -0.429 | Destabilizing | 0.997 | D | 0.679 | prob.neutral | N | 0.495047369 | None | None | I |
| R/Y | 0.3201 | likely_benign | 0.3429 | ambiguous | -0.016 | Destabilizing | 0.991 | D | 0.609 | neutral | None | None | None | None | I |
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.