Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3303 | 10132;10133;10134 | chr2:178764608;178764607;178764606 | chr2:179629335;179629334;179629333 |
| N2AB | 3303 | 10132;10133;10134 | chr2:178764608;178764607;178764606 | chr2:179629335;179629334;179629333 |
| N2A | 3303 | 10132;10133;10134 | chr2:178764608;178764607;178764606 | chr2:179629335;179629334;179629333 |
| N2B | 3257 | 9994;9995;9996 | chr2:178764608;178764607;178764606 | chr2:179629335;179629334;179629333 |
| Novex-1 | 3257 | 9994;9995;9996 | chr2:178764608;178764607;178764606 | chr2:179629335;179629334;179629333 |
| Novex-2 | 3257 | 9994;9995;9996 | chr2:178764608;178764607;178764606 | chr2:179629335;179629334;179629333 |
| Novex-3 | 3303 | 10132;10133;10134 | chr2:178764608;178764607;178764606 | chr2:179629335;179629334;179629333 |
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/L | rs201379132  |
-0.043 | 0.999 | N | 0.704 | 0.527 | 0.675724534598 | gnomAD-2.1.1 | 1.09754E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.16567E-04 | None | 0 | 4.66E-05 | 0 |
| P/L | rs201379132 |
-0.043 | 0.999 | N | 0.704 | 0.527 | 0.675724534598 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 6.22407E-04 | 0 |
| P/L | rs201379132 |
-0.043 | 0.999 | N | 0.704 | 0.527 | 0.675724534598 | gnomAD-4.0.0 | 6.13382E-05 | None | None | None | None | N | None | 1.33461E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.94914E-05 | 8.12508E-04 | 1.60036E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2689 | likely_benign | 0.2574 | benign | -0.808 | Destabilizing | 0.996 | D | 0.488 | neutral | D | 0.522463403 | None | None | N |
| P/C | 0.9491 | likely_pathogenic | 0.9251 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/D | 0.9212 | likely_pathogenic | 0.9002 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| P/E | 0.6904 | likely_pathogenic | 0.6502 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| P/F | 0.9357 | likely_pathogenic | 0.9128 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/G | 0.8421 | likely_pathogenic | 0.8029 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| P/H | 0.6743 | likely_pathogenic | 0.6032 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| P/I | 0.8041 | likely_pathogenic | 0.7653 | pathogenic | -0.477 | Destabilizing | 0.999 | D | 0.76 | deleterious | None | None | None | None | N |
| P/K | 0.8084 | likely_pathogenic | 0.7812 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| P/L | 0.3637 | ambiguous | 0.3131 | benign | -0.477 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | N | 0.519362763 | None | None | N |
| P/M | 0.8087 | likely_pathogenic | 0.7571 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| P/N | 0.9057 | likely_pathogenic | 0.878 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| P/Q | 0.5179 | ambiguous | 0.4673 | ambiguous | -0.643 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.560239682 | None | None | N |
| P/R | 0.5701 | likely_pathogenic | 0.5286 | ambiguous | -0.072 | Destabilizing | 0.999 | D | 0.736 | prob.delet. | N | 0.51616409 | None | None | N |
| P/S | 0.4578 | ambiguous | 0.4155 | ambiguous | -0.81 | Destabilizing | 0.998 | D | 0.597 | neutral | D | 0.547830576 | None | None | N |
| P/T | 0.4414 | ambiguous | 0.3888 | ambiguous | -0.802 | Destabilizing | 0.884 | D | 0.348 | neutral | D | 0.598253166 | None | None | N |
| P/V | 0.6638 | likely_pathogenic | 0.6132 | pathogenic | -0.552 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| P/W | 0.9542 | likely_pathogenic | 0.9271 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/Y | 0.9208 | likely_pathogenic | 0.8905 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.757 | 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.