Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15043 | 45352;45353;45354 | chr2:178621697;178621696;178621695 | chr2:179486424;179486423;179486422 |
| N2AB | 13402 | 40429;40430;40431 | chr2:178621697;178621696;178621695 | chr2:179486424;179486423;179486422 |
| N2A | 12475 | 37648;37649;37650 | chr2:178621697;178621696;178621695 | chr2:179486424;179486423;179486422 |
| N2B | 5978 | 18157;18158;18159 | chr2:178621697;178621696;178621695 | chr2:179486424;179486423;179486422 |
| Novex-1 | 6103 | 18532;18533;18534 | chr2:178621697;178621696;178621695 | chr2:179486424;179486423;179486422 |
| Novex-2 | 6170 | 18733;18734;18735 | chr2:178621697;178621696;178621695 | chr2:179486424;179486423;179486422 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs376144178  |
-0.846 | None | N | 0.17 | 0.077 | None | gnomAD-2.1.1 | 4.33E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.52E-05 | 0 |
| S/N | rs376144178 |
-0.846 | None | N | 0.17 | 0.077 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.84E-05 | 0 | 0 |
| S/N | rs376144178 |
-0.846 | None | N | 0.17 | 0.077 | None | gnomAD-4.0.0 | 7.38245E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.24511E-05 | 0 | 1.60431E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.085 | likely_benign | 0.0876 | benign | -0.567 | Destabilizing | 0.002 | N | 0.197 | neutral | None | None | None | None | N |
| S/C | 0.186 | likely_benign | 0.2005 | benign | -0.39 | Destabilizing | 0.602 | D | 0.46 | neutral | N | 0.512587608 | None | None | N |
| S/D | 0.335 | likely_benign | 0.4025 | ambiguous | -0.666 | Destabilizing | 0.055 | N | 0.291 | neutral | None | None | None | None | N |
| S/E | 0.4584 | ambiguous | 0.5455 | ambiguous | -0.706 | Destabilizing | 0.104 | N | 0.291 | neutral | None | None | None | None | N |
| S/F | 0.2843 | likely_benign | 0.3271 | benign | -0.864 | Destabilizing | 0.667 | D | 0.547 | neutral | None | None | None | None | N |
| S/G | 0.0933 | likely_benign | 0.0995 | benign | -0.779 | Destabilizing | 0.042 | N | 0.263 | neutral | N | 0.516879969 | None | None | N |
| S/H | 0.3626 | ambiguous | 0.4255 | ambiguous | -1.343 | Destabilizing | 0.497 | N | 0.469 | neutral | None | None | None | None | N |
| S/I | 0.1835 | likely_benign | 0.2081 | benign | -0.117 | Destabilizing | 0.096 | N | 0.525 | neutral | N | 0.499339787 | None | None | N |
| S/K | 0.5298 | ambiguous | 0.6228 | pathogenic | -0.867 | Destabilizing | 0.055 | N | 0.295 | neutral | None | None | None | None | N |
| S/L | 0.114 | likely_benign | 0.1262 | benign | -0.117 | Destabilizing | 0.055 | N | 0.494 | neutral | None | None | None | None | N |
| S/M | 0.2149 | likely_benign | 0.225 | benign | 0.302 | Stabilizing | 0.667 | D | 0.472 | neutral | None | None | None | None | N |
| S/N | 0.1032 | likely_benign | 0.1142 | benign | -0.747 | Destabilizing | None | N | 0.17 | neutral | N | 0.475180565 | None | None | N |
| S/P | 0.1945 | likely_benign | 0.2579 | benign | -0.235 | Destabilizing | 0.364 | N | 0.453 | neutral | None | None | None | None | N |
| S/Q | 0.4425 | ambiguous | 0.5125 | ambiguous | -0.997 | Destabilizing | 0.22 | N | 0.34 | neutral | None | None | None | None | N |
| S/R | 0.431 | ambiguous | 0.5232 | ambiguous | -0.631 | Destabilizing | 0.175 | N | 0.429 | neutral | N | 0.483808182 | None | None | N |
| S/T | 0.088 | likely_benign | 0.0844 | benign | -0.73 | Destabilizing | None | N | 0.186 | neutral | N | 0.409027671 | None | None | N |
| S/V | 0.2057 | likely_benign | 0.2304 | benign | -0.235 | Destabilizing | 0.055 | N | 0.496 | neutral | None | None | None | None | N |
| S/W | 0.405 | ambiguous | 0.4891 | ambiguous | -0.865 | Destabilizing | 0.958 | D | 0.563 | neutral | None | None | None | None | N |
| S/Y | 0.2456 | likely_benign | 0.2933 | benign | -0.609 | Destabilizing | 0.667 | D | 0.553 | 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.