Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2345 | 7258;7259;7260 | chr2:178774231;178774230;178774229 | chr2:179638958;179638957;179638956 |
| N2AB | 2345 | 7258;7259;7260 | chr2:178774231;178774230;178774229 | chr2:179638958;179638957;179638956 |
| N2A | 2345 | 7258;7259;7260 | chr2:178774231;178774230;178774229 | chr2:179638958;179638957;179638956 |
| N2B | 2299 | 7120;7121;7122 | chr2:178774231;178774230;178774229 | chr2:179638958;179638957;179638956 |
| Novex-1 | 2299 | 7120;7121;7122 | chr2:178774231;178774230;178774229 | chr2:179638958;179638957;179638956 |
| Novex-2 | 2299 | 7120;7121;7122 | chr2:178774231;178774230;178774229 | chr2:179638958;179638957;179638956 |
| Novex-3 | 2345 | 7258;7259;7260 | chr2:178774231;178774230;178774229 | chr2:179638958;179638957;179638956 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.999 | N | 0.574 | 0.305 | 0.126345400529 | gnomAD-4.0.0 | 6.15683E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.0938E-06 | 0 | 0 |
| T/I | rs1273542789  |
0.124 | 1.0 | N | 0.783 | 0.534 | 0.28798054836 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| T/I | rs1273542789 |
0.124 | 1.0 | N | 0.783 | 0.534 | 0.28798054836 | gnomAD-4.0.0 | 1.59063E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8567E-06 | 0 | 0 |
| T/S | rs1336710526 |
-1.136 | 0.999 | N | 0.55 | 0.243 | 0.0954503805726 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/S | rs1336710526 |
-1.136 | 0.999 | N | 0.55 | 0.243 | 0.0954503805726 | gnomAD-4.0.0 | 1.36818E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 1.65579E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2294 | likely_benign | 0.1899 | benign | -1.06 | Destabilizing | 0.999 | D | 0.574 | neutral | N | 0.425901956 | None | None | N |
| T/C | 0.7899 | likely_pathogenic | 0.7458 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| T/D | 0.9253 | likely_pathogenic | 0.9153 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| T/E | 0.9045 | likely_pathogenic | 0.8874 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| T/F | 0.8258 | likely_pathogenic | 0.7903 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| T/G | 0.5468 | ambiguous | 0.5001 | ambiguous | -1.477 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/H | 0.8303 | likely_pathogenic | 0.7996 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| T/I | 0.7145 | likely_pathogenic | 0.653 | pathogenic | 0.023 | Stabilizing | 1.0 | D | 0.783 | deleterious | N | 0.437611625 | None | None | N |
| T/K | 0.828 | likely_pathogenic | 0.8031 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.43642254 | None | None | N |
| T/L | 0.493 | ambiguous | 0.4349 | ambiguous | 0.023 | Stabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/M | 0.2945 | likely_benign | 0.2498 | benign | 0.07 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/N | 0.4902 | ambiguous | 0.455 | ambiguous | -1.046 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| T/P | 0.9396 | likely_pathogenic | 0.9327 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.440033179 | None | None | N |
| T/Q | 0.7937 | likely_pathogenic | 0.7606 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| T/R | 0.8027 | likely_pathogenic | 0.7688 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.452882305 | None | None | N |
| T/S | 0.2084 | likely_benign | 0.1929 | benign | -1.349 | Destabilizing | 0.999 | D | 0.55 | neutral | N | 0.402518837 | None | None | N |
| T/V | 0.5245 | ambiguous | 0.4628 | ambiguous | -0.305 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| T/W | 0.9651 | likely_pathogenic | 0.9601 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| T/Y | 0.8323 | likely_pathogenic | 0.8063 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.84 | 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.