Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 12 | 259;260;261 | chr2:178804609;178804608;178804607 | chr2:179669336;179669335;179669334 |
| N2AB | 12 | 259;260;261 | chr2:178804609;178804608;178804607 | chr2:179669336;179669335;179669334 |
| N2A | 12 | 259;260;261 | chr2:178804609;178804608;178804607 | chr2:179669336;179669335;179669334 |
| N2B | 12 | 259;260;261 | chr2:178804609;178804608;178804607 | chr2:179669336;179669335;179669334 |
| Novex-1 | 12 | 259;260;261 | chr2:178804609;178804608;178804607 | chr2:179669336;179669335;179669334 |
| Novex-2 | 12 | 259;260;261 | chr2:178804609;178804608;178804607 | chr2:179669336;179669335;179669334 |
| Novex-3 | 12 | 259;260;261 | chr2:178804609;178804608;178804607 | chr2:179669336;179669335;179669334 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | None | None | 1.0 | D | 0.848 | 0.479 | 0.893473383505 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.256(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.7809 | likely_pathogenic | 0.8917 | pathogenic | -2.187 | Highly Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | -0.529(TCAP) | N |
| L/C | 0.9566 | likely_pathogenic | 0.9797 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | -0.519(TCAP) | N |
| L/D | 0.9923 | likely_pathogenic | 0.9978 | pathogenic | -2.118 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | -0.365(TCAP) | N |
| L/E | 0.938 | likely_pathogenic | 0.9808 | pathogenic | -1.858 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | -0.495(TCAP) | N |
| L/F | 0.6345 | likely_pathogenic | 0.6854 | pathogenic | -1.14 | Destabilizing | 0.999 | D | 0.75 | deleterious | D | 0.594088417 | None | -0.291(TCAP) | N |
| L/G | 0.9564 | likely_pathogenic | 0.9814 | pathogenic | -2.767 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | -0.451(TCAP) | N |
| L/H | 0.9441 | likely_pathogenic | 0.9799 | pathogenic | -2.278 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | 0.172(TCAP) | N |
| L/I | 0.2016 | likely_benign | 0.2394 | benign | -0.506 | Destabilizing | 0.111 | N | 0.355 | neutral | N | 0.456152705 | None | -0.791(TCAP) | N |
| L/K | 0.9326 | likely_pathogenic | 0.9779 | pathogenic | -1.386 | Destabilizing | 0.994 | D | 0.839 | deleterious | None | None | None | -0.782(TCAP) | N |
| L/M | 0.3435 | ambiguous | 0.4101 | ambiguous | -0.672 | Destabilizing | 0.997 | D | 0.775 | deleterious | None | None | None | -0.654(TCAP) | N |
| L/N | 0.9668 | likely_pathogenic | 0.989 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -0.53(TCAP) | N |
| L/P | 0.7465 | likely_pathogenic | 0.8811 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -0.699(TCAP) | N |
| L/Q | 0.815 | likely_pathogenic | 0.9298 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | -0.547(TCAP) | N |
| L/R | 0.8649 | likely_pathogenic | 0.9506 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | -0.838(TCAP) | N |
| L/S | 0.926 | likely_pathogenic | 0.9729 | pathogenic | -2.523 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.612441015 | None | -0.256(TCAP) | N |
| L/T | 0.8222 | likely_pathogenic | 0.9147 | pathogenic | -2.101 | Highly Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | -0.387(TCAP) | N |
| L/V | 0.2257 | likely_benign | 0.2926 | benign | -1.048 | Destabilizing | 0.824 | D | 0.541 | neutral | D | 0.57109934 | None | -0.699(TCAP) | N |
| L/W | 0.9237 | likely_pathogenic | 0.9581 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | -0.362(TCAP) | N |
| L/Y | 0.9636 | likely_pathogenic | 0.9803 | pathogenic | -1.166 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | -0.323(TCAP) | 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.