Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2994 | 9205;9206;9207 | chr2:178768856;178768855;178768854 | chr2:179633583;179633582;179633581 |
| N2AB | 2994 | 9205;9206;9207 | chr2:178768856;178768855;178768854 | chr2:179633583;179633582;179633581 |
| N2A | 2994 | 9205;9206;9207 | chr2:178768856;178768855;178768854 | chr2:179633583;179633582;179633581 |
| N2B | 2948 | 9067;9068;9069 | chr2:178768856;178768855;178768854 | chr2:179633583;179633582;179633581 |
| Novex-1 | 2948 | 9067;9068;9069 | chr2:178768856;178768855;178768854 | chr2:179633583;179633582;179633581 |
| Novex-2 | 2948 | 9067;9068;9069 | chr2:178768856;178768855;178768854 | chr2:179633583;179633582;179633581 |
| Novex-3 | 2994 | 9205;9206;9207 | chr2:178768856;178768855;178768854 | chr2:179633583;179633582;179633581 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 0.993 | N | 0.562 | 0.529 | 0.642606198802 | gnomAD-4.0.0 | 6.84093E-07 | None | None | None | None | N | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs1288991244  |
-0.978 | 0.006 | N | 0.236 | 0.153 | 0.236278675362 | 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 |
| Y/H | rs1288991244 |
-0.978 | 0.006 | N | 0.236 | 0.153 | 0.236278675362 | gnomAD-4.0.0 | 4.77193E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-05 | 0 |
| Y/N | None | None | 0.761 | N | 0.518 | 0.333 | 0.629698297941 | gnomAD-4.0.0 | 3.18129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71305E-06 | 0 | 0 |
| Y/S | rs745929875 |
-2.292 | 0.864 | N | 0.477 | 0.353 | 0.662957795054 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| Y/S | rs745929875 |
-2.292 | 0.864 | N | 0.477 | 0.353 | 0.662957795054 | gnomAD-4.0.0 | 2.05228E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69789E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.6048 | likely_pathogenic | 0.583 | pathogenic | -1.148 | Destabilizing | 0.707 | D | 0.477 | neutral | None | None | None | None | N |
| Y/C | 0.1522 | likely_benign | 0.1712 | benign | -0.499 | Destabilizing | 0.993 | D | 0.562 | neutral | N | 0.50695778 | None | None | N |
| Y/D | 0.5071 | ambiguous | 0.5105 | ambiguous | -0.069 | Destabilizing | 0.864 | D | 0.6 | neutral | N | 0.481147208 | None | None | N |
| Y/E | 0.64 | likely_pathogenic | 0.6536 | pathogenic | -0.034 | Destabilizing | 0.809 | D | 0.468 | neutral | None | None | None | None | N |
| Y/F | 0.1359 | likely_benign | 0.1414 | benign | -0.451 | Destabilizing | 0.645 | D | 0.583 | neutral | N | 0.495149577 | None | None | N |
| Y/G | 0.6713 | likely_pathogenic | 0.6792 | pathogenic | -1.374 | Destabilizing | 0.894 | D | 0.532 | neutral | None | None | None | None | N |
| Y/H | 0.0909 | likely_benign | 0.0936 | benign | -0.042 | Destabilizing | 0.006 | N | 0.236 | neutral | N | 0.452724772 | None | None | N |
| Y/I | 0.6228 | likely_pathogenic | 0.627 | pathogenic | -0.517 | Destabilizing | 0.945 | D | 0.506 | neutral | None | None | None | None | N |
| Y/K | 0.5507 | ambiguous | 0.5737 | pathogenic | -0.534 | Destabilizing | 0.894 | D | 0.523 | neutral | None | None | None | None | N |
| Y/L | 0.622 | likely_pathogenic | 0.6031 | pathogenic | -0.517 | Destabilizing | 0.707 | D | 0.52 | neutral | None | None | None | None | N |
| Y/M | 0.7209 | likely_pathogenic | 0.7192 | pathogenic | -0.568 | Destabilizing | 0.995 | D | 0.483 | neutral | None | None | None | None | N |
| Y/N | 0.2495 | likely_benign | 0.2525 | benign | -0.988 | Destabilizing | 0.761 | D | 0.518 | neutral | N | 0.505140808 | None | None | N |
| Y/P | 0.9827 | likely_pathogenic | 0.9818 | pathogenic | -0.715 | Destabilizing | 0.945 | D | 0.609 | neutral | None | None | None | None | N |
| Y/Q | 0.4185 | ambiguous | 0.4318 | ambiguous | -0.86 | Destabilizing | 0.894 | D | 0.5 | neutral | None | None | None | None | N |
| Y/R | 0.3171 | likely_benign | 0.3419 | ambiguous | -0.273 | Destabilizing | 0.894 | D | 0.547 | neutral | None | None | None | None | N |
| Y/S | 0.304 | likely_benign | 0.3143 | benign | -1.324 | Destabilizing | 0.864 | D | 0.477 | neutral | N | 0.493057482 | None | None | N |
| Y/T | 0.482 | ambiguous | 0.4909 | ambiguous | -1.195 | Destabilizing | 0.945 | D | 0.533 | neutral | None | None | None | None | N |
| Y/V | 0.494 | ambiguous | 0.4957 | ambiguous | -0.715 | Destabilizing | 0.945 | D | 0.485 | neutral | None | None | None | None | N |
| Y/W | 0.4783 | ambiguous | 0.4896 | ambiguous | -0.386 | Destabilizing | 0.995 | D | 0.567 | 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.