Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18252 | 54979;54980;54981 | chr2:178603933;178603932;178603931 | chr2:179468660;179468659;179468658 |
| N2AB | 16611 | 50056;50057;50058 | chr2:178603933;178603932;178603931 | chr2:179468660;179468659;179468658 |
| N2A | 15684 | 47275;47276;47277 | chr2:178603933;178603932;178603931 | chr2:179468660;179468659;179468658 |
| N2B | 9187 | 27784;27785;27786 | chr2:178603933;178603932;178603931 | chr2:179468660;179468659;179468658 |
| Novex-1 | 9312 | 28159;28160;28161 | chr2:178603933;178603932;178603931 | chr2:179468660;179468659;179468658 |
| Novex-2 | 9379 | 28360;28361;28362 | chr2:178603933;178603932;178603931 | chr2:179468660;179468659;179468658 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs551602191  |
-0.185 | 1.0 | N | 0.731 | 0.376 | 0.462461958149 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/V | rs551602191 |
-0.185 | 1.0 | N | 0.731 | 0.376 | 0.462461958149 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs551602191 |
-0.185 | 1.0 | N | 0.731 | 0.376 | 0.462461958149 | gnomAD-4.0.0 | 1.2837E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.15885E-05 | 0 | 2.85063E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6762 | likely_pathogenic | 0.7438 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| A/D | 0.9683 | likely_pathogenic | 0.9801 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| A/E | 0.8977 | likely_pathogenic | 0.9414 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.465684019 | None | None | I |
| A/F | 0.7737 | likely_pathogenic | 0.8481 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| A/G | 0.4856 | ambiguous | 0.4453 | ambiguous | -0.329 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.520231028 | None | None | I |
| A/H | 0.9119 | likely_pathogenic | 0.9428 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| A/I | 0.5811 | likely_pathogenic | 0.7217 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| A/K | 0.9449 | likely_pathogenic | 0.9607 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| A/L | 0.6718 | likely_pathogenic | 0.7412 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| A/M | 0.6427 | likely_pathogenic | 0.7563 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| A/N | 0.885 | likely_pathogenic | 0.9249 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| A/P | 0.9715 | likely_pathogenic | 0.9777 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.514062209 | None | None | I |
| A/Q | 0.8343 | likely_pathogenic | 0.8812 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| A/R | 0.8612 | likely_pathogenic | 0.8925 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| A/S | 0.2479 | likely_benign | 0.2689 | benign | -0.559 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.516500076 | None | None | I |
| A/T | 0.4471 | ambiguous | 0.5546 | ambiguous | -0.636 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.49033564 | None | None | I |
| A/V | 0.2933 | likely_benign | 0.3965 | ambiguous | -0.348 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.453334032 | None | None | I |
| A/W | 0.9756 | likely_pathogenic | 0.9837 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| A/Y | 0.9092 | likely_pathogenic | 0.9455 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.881 | deleterious | 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.