Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24129 | 72610;72611;72612 | chr2:178573747;178573746;178573745 | chr2:179438474;179438473;179438472 |
| N2AB | 22488 | 67687;67688;67689 | chr2:178573747;178573746;178573745 | chr2:179438474;179438473;179438472 |
| N2A | 21561 | 64906;64907;64908 | chr2:178573747;178573746;178573745 | chr2:179438474;179438473;179438472 |
| N2B | 15064 | 45415;45416;45417 | chr2:178573747;178573746;178573745 | chr2:179438474;179438473;179438472 |
| Novex-1 | 15189 | 45790;45791;45792 | chr2:178573747;178573746;178573745 | chr2:179438474;179438473;179438472 |
| Novex-2 | 15256 | 45991;45992;45993 | chr2:178573747;178573746;178573745 | chr2:179438474;179438473;179438472 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | None | None | 0.905 | N | 0.313 | 0.427 | 0.28492961333 | gnomAD-4.0.0 | 7.00649E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.25983E-05 | 0 |
| P/T | rs769979644  |
-0.364 | 0.992 | N | 0.639 | 0.412 | 0.560228584591 | gnomAD-2.1.1 | 4.53E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.77E-06 | 0 |
| P/T | rs769979644 |
-0.364 | 0.992 | N | 0.639 | 0.412 | 0.560228584591 | gnomAD-4.0.0 | 7.00649E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.11818E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1679 | likely_benign | 0.1879 | benign | -0.488 | Destabilizing | 0.992 | D | 0.533 | neutral | N | 0.505210665 | None | None | N |
| P/C | 0.5502 | ambiguous | 0.5963 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/D | 0.4902 | ambiguous | 0.5389 | ambiguous | -0.157 | Destabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | N |
| P/E | 0.3633 | ambiguous | 0.3938 | ambiguous | -0.23 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| P/F | 0.5907 | likely_pathogenic | 0.6552 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/G | 0.4642 | ambiguous | 0.4929 | ambiguous | -0.628 | Destabilizing | 0.997 | D | 0.599 | neutral | None | None | None | None | N |
| P/H | 0.2602 | likely_benign | 0.294 | benign | 0.013 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.515859408 | None | None | N |
| P/I | 0.4266 | ambiguous | 0.4536 | ambiguous | -0.248 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/K | 0.3109 | likely_benign | 0.3366 | benign | -0.477 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| P/L | 0.1982 | likely_benign | 0.2134 | benign | -0.248 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | N | 0.497240812 | None | None | N |
| P/M | 0.4106 | ambiguous | 0.4314 | ambiguous | -0.584 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/N | 0.4015 | ambiguous | 0.4483 | ambiguous | -0.39 | Destabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | N |
| P/Q | 0.2356 | likely_benign | 0.2587 | benign | -0.536 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/R | 0.2264 | likely_benign | 0.2578 | benign | -0.019 | Destabilizing | 0.999 | D | 0.767 | deleterious | N | 0.519960785 | None | None | N |
| P/S | 0.2343 | likely_benign | 0.2704 | benign | -0.786 | Destabilizing | 0.905 | D | 0.313 | neutral | N | 0.499957199 | None | None | N |
| P/T | 0.193 | likely_benign | 0.2068 | benign | -0.75 | Destabilizing | 0.992 | D | 0.639 | neutral | N | 0.50835099 | None | None | N |
| P/V | 0.317 | likely_benign | 0.3339 | benign | -0.296 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| P/W | 0.7743 | likely_pathogenic | 0.8078 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/Y | 0.5349 | ambiguous | 0.5836 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.761 | deleterious | 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.