Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30120 | 90583;90584;90585 | chr2:178552542;178552541;178552540 | chr2:179417269;179417268;179417267 |
| N2AB | 28479 | 85660;85661;85662 | chr2:178552542;178552541;178552540 | chr2:179417269;179417268;179417267 |
| N2A | 27552 | 82879;82880;82881 | chr2:178552542;178552541;178552540 | chr2:179417269;179417268;179417267 |
| N2B | 21055 | 63388;63389;63390 | chr2:178552542;178552541;178552540 | chr2:179417269;179417268;179417267 |
| Novex-1 | 21180 | 63763;63764;63765 | chr2:178552542;178552541;178552540 | chr2:179417269;179417268;179417267 |
| Novex-2 | 21247 | 63964;63965;63966 | chr2:178552542;178552541;178552540 | chr2:179417269;179417268;179417267 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs748786455  |
-1.758 | 0.739 | N | 0.795 | 0.414 | 0.776790016529 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.35683E-04 | None | 0 | None | 0 | 0 | 0 |
| I/N | rs748786455 |
-1.758 | 0.739 | N | 0.795 | 0.414 | 0.776790016529 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.79151E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/N | rs748786455 |
-1.758 | 0.739 | N | 0.795 | 0.414 | 0.776790016529 | gnomAD-4.0.0 | 2.35497E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.47987E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs748786455 |
-2.147 | 0.061 | N | 0.815 | 0.265 | 0.572037683187 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| I/T | rs748786455 |
-2.147 | 0.061 | N | 0.815 | 0.265 | 0.572037683187 | gnomAD-4.0.0 | 2.05271E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.82673E-05 | 0 | None | 0 | 0 | 1.79893E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8117 | likely_pathogenic | 0.6839 | pathogenic | -2.35 | Highly Destabilizing | 0.08 | N | 0.716 | prob.delet. | None | None | None | None | N |
| I/C | 0.8808 | likely_pathogenic | 0.8036 | pathogenic | -1.578 | Destabilizing | 0.823 | D | 0.745 | deleterious | None | None | None | None | N |
| I/D | 0.9881 | likely_pathogenic | 0.9716 | pathogenic | -2.216 | Highly Destabilizing | 0.552 | D | 0.822 | deleterious | None | None | None | None | N |
| I/E | 0.9587 | likely_pathogenic | 0.923 | pathogenic | -2.021 | Highly Destabilizing | 0.552 | D | 0.816 | deleterious | None | None | None | None | N |
| I/F | 0.3847 | ambiguous | 0.3055 | benign | -1.345 | Destabilizing | 0.186 | N | 0.729 | deleterious | N | 0.467770706 | None | None | N |
| I/G | 0.9712 | likely_pathogenic | 0.9358 | pathogenic | -2.862 | Highly Destabilizing | 0.552 | D | 0.805 | deleterious | None | None | None | None | N |
| I/H | 0.9443 | likely_pathogenic | 0.8867 | pathogenic | -2.042 | Highly Destabilizing | 0.934 | D | 0.777 | deleterious | None | None | None | None | N |
| I/K | 0.9125 | likely_pathogenic | 0.8484 | pathogenic | -1.834 | Destabilizing | 0.552 | D | 0.813 | deleterious | None | None | None | None | N |
| I/L | 0.1838 | likely_benign | 0.1546 | benign | -0.898 | Destabilizing | None | N | 0.214 | neutral | N | 0.496657948 | None | None | N |
| I/M | 0.2075 | likely_benign | 0.1713 | benign | -0.787 | Destabilizing | 0.186 | N | 0.737 | deleterious | N | 0.483419425 | None | None | N |
| I/N | 0.8965 | likely_pathogenic | 0.8073 | pathogenic | -2.053 | Highly Destabilizing | 0.739 | D | 0.795 | deleterious | N | 0.49502922 | None | None | N |
| I/P | 0.9909 | likely_pathogenic | 0.9792 | pathogenic | -1.36 | Destabilizing | 0.789 | D | 0.809 | deleterious | None | None | None | None | N |
| I/Q | 0.9172 | likely_pathogenic | 0.8505 | pathogenic | -1.964 | Destabilizing | 0.789 | D | 0.755 | deleterious | None | None | None | None | N |
| I/R | 0.8859 | likely_pathogenic | 0.8018 | pathogenic | -1.48 | Destabilizing | 0.552 | D | 0.798 | deleterious | None | None | None | None | N |
| I/S | 0.8973 | likely_pathogenic | 0.8009 | pathogenic | -2.78 | Highly Destabilizing | 0.314 | N | 0.747 | deleterious | N | 0.491987346 | None | None | N |
| I/T | 0.8191 | likely_pathogenic | 0.6924 | pathogenic | -2.432 | Highly Destabilizing | 0.061 | N | 0.815 | deleterious | N | 0.481391509 | None | None | N |
| I/V | 0.0749 | likely_benign | 0.0674 | benign | -1.36 | Destabilizing | None | N | 0.162 | neutral | N | 0.384025876 | None | None | N |
| I/W | 0.9605 | likely_pathogenic | 0.932 | pathogenic | -1.592 | Destabilizing | 0.934 | D | 0.768 | deleterious | None | None | None | None | N |
| I/Y | 0.8601 | likely_pathogenic | 0.77 | pathogenic | -1.33 | Destabilizing | 0.552 | D | 0.789 | 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.