Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16969 | 51130;51131;51132 | chr2:178611224;178611223;178611222 | chr2:179475951;179475950;179475949 |
| N2AB | 15328 | 46207;46208;46209 | chr2:178611224;178611223;178611222 | chr2:179475951;179475950;179475949 |
| N2A | 14401 | 43426;43427;43428 | chr2:178611224;178611223;178611222 | chr2:179475951;179475950;179475949 |
| N2B | 7904 | 23935;23936;23937 | chr2:178611224;178611223;178611222 | chr2:179475951;179475950;179475949 |
| Novex-1 | 8029 | 24310;24311;24312 | chr2:178611224;178611223;178611222 | chr2:179475951;179475950;179475949 |
| Novex-2 | 8096 | 24511;24512;24513 | chr2:178611224;178611223;178611222 | chr2:179475951;179475950;179475949 |
| 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/R | rs878854314  |
-0.441 | 0.999 | D | 0.717 | 0.7 | 0.70534223 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 8.73E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs878854314 |
-0.441 | 0.999 | D | 0.717 | 0.7 | 0.70534223 | gnomAD-4.0.0 | 1.15473E-05 | None | None | None | None | I | None | 0 | 1.52781E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs878854314 |
None | 0.992 | D | 0.68 | 0.712 | 0.56148523 | gnomAD-4.0.0 | 3.18789E-06 | None | None | None | None | I | None | 0 | 4.58127E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 0.999 | D | 0.661 | 0.749 | 0.8102198 | gnomAD-4.0.0 | 3.42351E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63994E-05 | 1.65876E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4265 | ambiguous | 0.4821 | ambiguous | -0.508 | Destabilizing | 0.996 | D | 0.64 | neutral | D | 0.681377 | None | None | I |
| G/C | 0.6607 | likely_pathogenic | 0.7042 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.77531785 | None | None | I |
| G/D | 0.215 | likely_benign | 0.2755 | benign | -0.836 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | D | 0.6609488 | None | None | I |
| G/E | 0.3497 | ambiguous | 0.4324 | ambiguous | -0.989 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | I |
| G/F | 0.9413 | likely_pathogenic | 0.9522 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/H | 0.7125 | likely_pathogenic | 0.7623 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| G/I | 0.9053 | likely_pathogenic | 0.9346 | pathogenic | -0.564 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/K | 0.6988 | likely_pathogenic | 0.7579 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/L | 0.872 | likely_pathogenic | 0.8903 | pathogenic | -0.564 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | I |
| G/M | 0.8618 | likely_pathogenic | 0.876 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/N | 0.2772 | likely_benign | 0.3358 | benign | -0.694 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/P | 0.9842 | likely_pathogenic | 0.9831 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| G/Q | 0.5637 | ambiguous | 0.6345 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/R | 0.6417 | likely_pathogenic | 0.7026 | pathogenic | -0.519 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | D | 0.6732348 | None | None | I |
| G/S | 0.2008 | likely_benign | 0.2446 | benign | -0.861 | Destabilizing | 0.992 | D | 0.68 | prob.neutral | D | 0.6733006 | None | None | I |
| G/T | 0.4708 | ambiguous | 0.5222 | ambiguous | -0.949 | Destabilizing | 0.813 | D | 0.493 | neutral | None | None | None | None | I |
| G/V | 0.8089 | likely_pathogenic | 0.8587 | pathogenic | -0.511 | Destabilizing | 0.999 | D | 0.661 | neutral | D | 0.7755605 | None | None | I |
| G/W | 0.8384 | likely_pathogenic | 0.8596 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/Y | 0.8376 | likely_pathogenic | 0.8717 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | 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.