Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5680 | 17263;17264;17265 | chr2:178731837;178731836;178731835 | chr2:179596564;179596563;179596562 |
| N2AB | 5363 | 16312;16313;16314 | chr2:178731837;178731836;178731835 | chr2:179596564;179596563;179596562 |
| N2A | 4436 | 13531;13532;13533 | chr2:178731837;178731836;178731835 | chr2:179596564;179596563;179596562 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 0.012 | N | 0.305 | 0.242 | 0.107399877778 | gnomAD-4.0.0 | 6.84208E-07 | None | None | None | None | I | None | 2.98775E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs769986653  |
-0.051 | 0.934 | N | 0.413 | 0.275 | 0.478680857624 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 1.15908E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs769986653 |
-0.051 | 0.934 | N | 0.413 | 0.275 | 0.478680857624 | gnomAD-4.0.0 | 3.42107E-06 | None | None | None | None | I | None | 0 | 1.11817E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs769986653 |
None | 0.051 | N | 0.236 | 0.094 | 0.0762999501168 | gnomAD-4.0.0 | 3.42107E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49744E-06 | 0 | 0 |
| G/V | None | None | 0.669 | N | 0.409 | 0.278 | 0.547384771329 | gnomAD-4.0.0 | 6.84208E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99488E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.157 | likely_benign | 0.156 | benign | -0.246 | Destabilizing | 0.454 | N | 0.405 | neutral | N | 0.493209424 | None | None | I |
| G/C | 0.2512 | likely_benign | 0.2479 | benign | -0.89 | Destabilizing | 0.997 | D | 0.497 | neutral | N | 0.47423135 | None | None | I |
| G/D | 0.5256 | ambiguous | 0.4958 | ambiguous | -0.38 | Destabilizing | 0.012 | N | 0.305 | neutral | N | 0.426405642 | None | None | I |
| G/E | 0.5528 | ambiguous | 0.5268 | ambiguous | -0.523 | Destabilizing | 0.728 | D | 0.343 | neutral | None | None | None | None | I |
| G/F | 0.7407 | likely_pathogenic | 0.7328 | pathogenic | -0.875 | Destabilizing | 0.974 | D | 0.481 | neutral | None | None | None | None | I |
| G/H | 0.5648 | likely_pathogenic | 0.5528 | ambiguous | -0.421 | Destabilizing | 0.998 | D | 0.412 | neutral | None | None | None | None | I |
| G/I | 0.4432 | ambiguous | 0.4502 | ambiguous | -0.347 | Destabilizing | 0.142 | N | 0.407 | neutral | None | None | None | None | I |
| G/K | 0.7313 | likely_pathogenic | 0.7259 | pathogenic | -0.753 | Destabilizing | 0.949 | D | 0.376 | neutral | None | None | None | None | I |
| G/L | 0.537 | ambiguous | 0.5377 | ambiguous | -0.347 | Destabilizing | 0.728 | D | 0.408 | neutral | None | None | None | None | I |
| G/M | 0.6148 | likely_pathogenic | 0.6076 | pathogenic | -0.549 | Destabilizing | 0.993 | D | 0.471 | neutral | None | None | None | None | I |
| G/N | 0.3407 | ambiguous | 0.3327 | benign | -0.453 | Destabilizing | 0.842 | D | 0.387 | neutral | None | None | None | None | I |
| G/P | 0.901 | likely_pathogenic | 0.9074 | pathogenic | -0.281 | Destabilizing | 0.974 | D | 0.399 | neutral | None | None | None | None | I |
| G/Q | 0.5313 | ambiguous | 0.5215 | ambiguous | -0.682 | Destabilizing | 0.974 | D | 0.414 | neutral | None | None | None | None | I |
| G/R | 0.574 | likely_pathogenic | 0.5583 | ambiguous | -0.354 | Destabilizing | 0.934 | D | 0.413 | neutral | N | 0.510256389 | None | None | I |
| G/S | 0.0756 | likely_benign | 0.0758 | benign | -0.625 | Destabilizing | 0.051 | N | 0.236 | neutral | N | 0.396389379 | None | None | I |
| G/T | 0.1665 | likely_benign | 0.1688 | benign | -0.688 | Destabilizing | 0.728 | D | 0.371 | neutral | None | None | None | None | I |
| G/V | 0.2843 | likely_benign | 0.3009 | benign | -0.281 | Destabilizing | 0.669 | D | 0.409 | neutral | N | 0.473977861 | None | None | I |
| G/W | 0.5996 | likely_pathogenic | 0.5758 | pathogenic | -1.045 | Destabilizing | 0.998 | D | 0.53 | neutral | None | None | None | None | I |
| G/Y | 0.6407 | likely_pathogenic | 0.6194 | pathogenic | -0.691 | Destabilizing | 0.991 | D | 0.474 | neutral | None | None | None | None | I |
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.