Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32494 | 97705;97706;97707 | chr2:178542276;178542275;178542274 | chr2:179407003;179407002;179407001 |
| N2AB | 30853 | 92782;92783;92784 | chr2:178542276;178542275;178542274 | chr2:179407003;179407002;179407001 |
| N2A | 29926 | 90001;90002;90003 | chr2:178542276;178542275;178542274 | chr2:179407003;179407002;179407001 |
| N2B | 23429 | 70510;70511;70512 | chr2:178542276;178542275;178542274 | chr2:179407003;179407002;179407001 |
| Novex-1 | 23554 | 70885;70886;70887 | chr2:178542276;178542275;178542274 | chr2:179407003;179407002;179407001 |
| Novex-2 | 23621 | 71086;71087;71088 | chr2:178542276;178542275;178542274 | chr2:179407003;179407002;179407001 |
| 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/C | rs727503539  |
-0.893 | 0.999 | N | 0.551 | 0.354 | 0.690096916387 | gnomAD-2.1.1 | 2.07E-05 | None | None | None | None | N | None | 0 | 1.18036E-04 | None | 0 | 5.74E-05 | None | 0 | None | 0 | 0 | 0 |
| R/C | rs727503539 |
-0.893 | 0.999 | N | 0.551 | 0.354 | 0.690096916387 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 3.93082E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs727503539 |
-0.893 | 0.999 | N | 0.551 | 0.354 | 0.690096916387 | gnomAD-4.0.0 | 1.24445E-05 | None | None | None | None | N | None | 1.33733E-05 | 2.51965E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 2.21322E-05 | 3.21492E-05 |
| R/H | rs371645048 |
-1.716 | 0.996 | N | 0.515 | 0.258 | None | gnomAD-2.1.1 | 3.3E-05 | None | None | None | None | N | None | 1.28227E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.83E-05 | 0 |
| R/H | rs371645048 |
-1.716 | 0.996 | N | 0.515 | 0.258 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/H | rs371645048 |
-1.716 | 0.996 | N | 0.515 | 0.258 | None | gnomAD-4.0.0 | 8.77626E-05 | None | None | None | None | N | None | 5.35045E-05 | 0 | None | 0 | 0 | None | 0 | 8.26446E-04 | 1.0975E-04 | 0 | 4.82346E-05 |
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 | 0.2524 | likely_benign | 0.218 | benign | -0.676 | Destabilizing | 0.505 | D | 0.384 | neutral | None | None | None | None | N |
| R/C | 0.1257 | likely_benign | 0.1163 | benign | -0.632 | Destabilizing | 0.999 | D | 0.551 | neutral | N | 0.472469658 | None | None | N |
| R/D | 0.5578 | ambiguous | 0.4868 | ambiguous | -0.016 | Destabilizing | 0.712 | D | 0.547 | neutral | None | None | None | None | N |
| R/E | 0.2467 | likely_benign | 0.2143 | benign | 0.067 | Stabilizing | 0.338 | N | 0.395 | neutral | None | None | None | None | N |
| R/F | 0.374 | ambiguous | 0.3385 | benign | -0.817 | Destabilizing | 0.982 | D | 0.571 | neutral | None | None | None | None | N |
| R/G | 0.2048 | likely_benign | 0.1667 | benign | -0.921 | Destabilizing | 0.826 | D | 0.561 | neutral | N | 0.47125615 | None | None | N |
| R/H | 0.0829 | likely_benign | 0.0802 | benign | -1.259 | Destabilizing | 0.996 | D | 0.515 | neutral | N | 0.471949583 | None | None | N |
| R/I | 0.1702 | likely_benign | 0.1646 | benign | -0.041 | Destabilizing | 0.946 | D | 0.633 | neutral | None | None | None | None | N |
| R/K | 0.0713 | likely_benign | 0.0677 | benign | -0.592 | Destabilizing | 0.001 | N | 0.203 | neutral | None | None | None | None | N |
| R/L | 0.1743 | likely_benign | 0.1569 | benign | -0.041 | Destabilizing | 0.826 | D | 0.561 | neutral | N | 0.471602867 | None | None | N |
| R/M | 0.1982 | likely_benign | 0.1843 | benign | -0.232 | Destabilizing | 0.982 | D | 0.544 | neutral | None | None | None | None | N |
| R/N | 0.3674 | ambiguous | 0.3282 | benign | -0.057 | Destabilizing | 0.712 | D | 0.444 | neutral | None | None | None | None | N |
| R/P | 0.7977 | likely_pathogenic | 0.6872 | pathogenic | -0.232 | Destabilizing | 0.906 | D | 0.609 | neutral | N | 0.471776225 | None | None | N |
| R/Q | 0.0801 | likely_benign | 0.075 | benign | -0.321 | Destabilizing | 0.712 | D | 0.425 | neutral | None | None | None | None | N |
| R/S | 0.288 | likely_benign | 0.2504 | benign | -0.802 | Destabilizing | 0.662 | D | 0.47 | neutral | N | 0.471082792 | None | None | N |
| R/T | 0.1368 | likely_benign | 0.1294 | benign | -0.559 | Destabilizing | 0.712 | D | 0.541 | neutral | None | None | None | None | N |
| R/V | 0.2062 | likely_benign | 0.1913 | benign | -0.232 | Destabilizing | 0.834 | D | 0.604 | neutral | None | None | None | None | N |
| R/W | 0.1994 | likely_benign | 0.1613 | benign | -0.578 | Destabilizing | 0.995 | D | 0.558 | neutral | None | None | None | None | N |
| R/Y | 0.3091 | likely_benign | 0.2703 | benign | -0.225 | Destabilizing | 0.982 | D | 0.618 | neutral | None | None | 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.