Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 984 | 3175;3176;3177 | chr2:178782956;178782955;178782954 | chr2:179647683;179647682;179647681 |
| N2AB | 984 | 3175;3176;3177 | chr2:178782956;178782955;178782954 | chr2:179647683;179647682;179647681 |
| N2A | 984 | 3175;3176;3177 | chr2:178782956;178782955;178782954 | chr2:179647683;179647682;179647681 |
| N2B | 938 | 3037;3038;3039 | chr2:178782956;178782955;178782954 | chr2:179647683;179647682;179647681 |
| Novex-1 | 938 | 3037;3038;3039 | chr2:178782956;178782955;178782954 | chr2:179647683;179647682;179647681 |
| Novex-2 | 938 | 3037;3038;3039 | chr2:178782956;178782955;178782954 | chr2:179647683;179647682;179647681 |
| Novex-3 | 984 | 3175;3176;3177 | chr2:178782956;178782955;178782954 | chr2:179647683;179647682;179647681 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs768091037  |
-0.043 | 1.0 | N | 0.651 | 0.478 | 0.6347069 | gnomAD-2.1.1 | 5.32E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 5.57236E-04 | 7.78E-06 | 0 |
| E/G | rs768091037 |
-0.043 | 1.0 | N | 0.651 | 0.478 | 0.6347069 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 5.64546E-04 | 0 | 0 | 0 | 0 |
| E/G | rs768091037 |
-0.043 | 1.0 | N | 0.651 | 0.478 | 0.6347069 | gnomAD-4.0.0 | 2.35434E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 5.46465E-04 | 0 | 1.6949E-06 | 0 | 1.60036E-05 |
| E/K | rs753071669 |
0.856 | 1.0 | N | 0.621 | 0.403 | 0.46167168 | gnomAD-2.1.1 | 7.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 8.84E-06 | 0 |
| E/K | rs753071669 |
0.856 | 1.0 | N | 0.621 | 0.403 | 0.46167168 | gnomAD-4.0.0 | 4.77169E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.56991E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2964 | likely_benign | 0.3129 | benign | 0.029 | Stabilizing | 0.999 | D | 0.663 | neutral | N | 0.5012417 | None | None | I |
| E/C | 0.9786 | likely_pathogenic | 0.9802 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| E/D | 0.3833 | ambiguous | 0.3845 | ambiguous | -0.391 | Destabilizing | 0.999 | D | 0.46 | neutral | N | 0.48678443 | None | None | I |
| E/F | 0.9528 | likely_pathogenic | 0.9577 | pathogenic | 0.014 | Stabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | I |
| E/G | 0.4289 | ambiguous | 0.4719 | ambiguous | -0.088 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.50257504 | None | None | I |
| E/H | 0.7908 | likely_pathogenic | 0.811 | pathogenic | 0.621 | Stabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | I |
| E/I | 0.7355 | likely_pathogenic | 0.7429 | pathogenic | 0.279 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| E/K | 0.3112 | likely_benign | 0.3561 | ambiguous | 0.5 | Stabilizing | 1.0 | D | 0.621 | neutral | N | 0.477352 | None | None | I |
| E/L | 0.7534 | likely_pathogenic | 0.7616 | pathogenic | 0.279 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| E/M | 0.7917 | likely_pathogenic | 0.8002 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | I |
| E/N | 0.5999 | likely_pathogenic | 0.6075 | pathogenic | 0.153 | Stabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | I |
| E/P | 0.8454 | likely_pathogenic | 0.8418 | pathogenic | 0.213 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | I |
| E/Q | 0.2303 | likely_benign | 0.2474 | benign | 0.175 | Stabilizing | 1.0 | D | 0.559 | neutral | N | 0.46390995 | None | None | I |
| E/R | 0.4923 | ambiguous | 0.5603 | ambiguous | 0.718 | Stabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | I |
| E/S | 0.3982 | ambiguous | 0.4144 | ambiguous | 0.061 | Stabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | I |
| E/T | 0.4313 | ambiguous | 0.4529 | ambiguous | 0.169 | Stabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | I |
| E/V | 0.4918 | ambiguous | 0.5131 | ambiguous | 0.213 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | N | 0.4703946 | None | None | I |
| E/W | 0.9903 | likely_pathogenic | 0.9922 | pathogenic | 0.059 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| E/Y | 0.9225 | likely_pathogenic | 0.9338 | pathogenic | 0.239 | Stabilizing | 1.0 | D | 0.653 | 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.