Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1026 | 3301;3302;3303 | chr2:178782830;178782829;178782828 | chr2:179647557;179647556;179647555 |
| N2AB | 1026 | 3301;3302;3303 | chr2:178782830;178782829;178782828 | chr2:179647557;179647556;179647555 |
| N2A | 1026 | 3301;3302;3303 | chr2:178782830;178782829;178782828 | chr2:179647557;179647556;179647555 |
| N2B | 980 | 3163;3164;3165 | chr2:178782830;178782829;178782828 | chr2:179647557;179647556;179647555 |
| Novex-1 | 980 | 3163;3164;3165 | chr2:178782830;178782829;178782828 | chr2:179647557;179647556;179647555 |
| Novex-2 | 980 | 3163;3164;3165 | chr2:178782830;178782829;178782828 | chr2:179647557;179647556;179647555 |
| Novex-3 | 1026 | 3301;3302;3303 | chr2:178782830;178782829;178782828 | chr2:179647557;179647556;179647555 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs2092899291  |
None | 0.999 | N | 0.601 | 0.399 | 0.294561560033 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/A | rs2092899291 |
None | 0.999 | N | 0.601 | 0.399 | 0.294561560033 | gnomAD-4.0.0 | 6.56953E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/I | rs1231552005 |
-0.34 | 1.0 | N | 0.84 | 0.54 | 0.637328616101 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| T/I | rs1231552005 |
-0.34 | 1.0 | N | 0.84 | 0.54 | 0.637328616101 | gnomAD-4.0.0 | 2.60101E-05 | None | None | None | None | I | None | 2.989E-05 | 0 | None | 0 | 0 | None | 1.87238E-05 | 0 | 3.14794E-05 | 1.16007E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4089 | ambiguous | 0.5266 | ambiguous | -1.02 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.416701442 | None | None | I |
| T/C | 0.9316 | likely_pathogenic | 0.9454 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| T/D | 0.9634 | likely_pathogenic | 0.9813 | pathogenic | -0.116 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| T/E | 0.9674 | likely_pathogenic | 0.9837 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| T/F | 0.9686 | likely_pathogenic | 0.98 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| T/G | 0.7925 | likely_pathogenic | 0.856 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| T/H | 0.944 | likely_pathogenic | 0.9617 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| T/I | 0.9405 | likely_pathogenic | 0.9624 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.84 | deleterious | N | 0.497044744 | None | None | I |
| T/K | 0.9643 | likely_pathogenic | 0.9799 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.477306372 | None | None | I |
| T/L | 0.7846 | likely_pathogenic | 0.8521 | pathogenic | -0.464 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | I |
| T/M | 0.6345 | likely_pathogenic | 0.7359 | pathogenic | -0.048 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| T/N | 0.8058 | likely_pathogenic | 0.8719 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| T/P | 0.9531 | likely_pathogenic | 0.967 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.512417193 | None | None | I |
| T/Q | 0.9294 | likely_pathogenic | 0.9574 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| T/R | 0.9486 | likely_pathogenic | 0.9698 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.489297482 | None | None | I |
| T/S | 0.3438 | ambiguous | 0.4204 | ambiguous | -0.914 | Destabilizing | 0.999 | D | 0.594 | neutral | N | 0.403489105 | None | None | I |
| T/V | 0.7984 | likely_pathogenic | 0.8475 | pathogenic | -0.618 | Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | I |
| T/W | 0.9944 | likely_pathogenic | 0.9964 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| T/Y | 0.9736 | likely_pathogenic | 0.9836 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.894 | 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.