Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34370 | 103333;103334;103335 | chr2:178533507;178533506;178533505 | chr2:179398234;179398233;179398232 |
| N2AB | 32729 | 98410;98411;98412 | chr2:178533507;178533506;178533505 | chr2:179398234;179398233;179398232 |
| N2A | 31802 | 95629;95630;95631 | chr2:178533507;178533506;178533505 | chr2:179398234;179398233;179398232 |
| N2B | 25305 | 76138;76139;76140 | chr2:178533507;178533506;178533505 | chr2:179398234;179398233;179398232 |
| Novex-1 | 25430 | 76513;76514;76515 | chr2:178533507;178533506;178533505 | chr2:179398234;179398233;179398232 |
| Novex-2 | 25497 | 76714;76715;76716 | chr2:178533507;178533506;178533505 | chr2:179398234;179398233;179398232 |
| 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/E | rs748511301  |
0.011 | 0.997 | N | 0.788 | 0.424 | 0.521070178209 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/E | rs748511301 |
0.011 | 0.997 | N | 0.788 | 0.424 | 0.521070178209 | gnomAD-4.0.0 | 1.59218E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.773E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs756504028 |
-0.254 | 0.997 | N | 0.645 | 0.282 | 0.312306559268 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs756504028 |
-0.254 | 0.997 | N | 0.645 | 0.282 | 0.312306559268 | gnomAD-4.0.0 | 1.59207E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.773E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7918 | likely_pathogenic | 0.8309 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/D | 0.9357 | likely_pathogenic | 0.9151 | pathogenic | -0.093 | Destabilizing | 0.998 | D | 0.785 | deleterious | None | None | None | None | N |
| A/E | 0.8892 | likely_pathogenic | 0.8592 | pathogenic | -0.212 | Destabilizing | 0.997 | D | 0.788 | deleterious | N | 0.405919379 | None | None | N |
| A/F | 0.8868 | likely_pathogenic | 0.848 | pathogenic | -0.748 | Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| A/G | 0.3903 | ambiguous | 0.4038 | ambiguous | -0.396 | Destabilizing | 0.117 | N | 0.319 | neutral | N | 0.496194667 | None | None | N |
| A/H | 0.8978 | likely_pathogenic | 0.8869 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| A/I | 0.915 | likely_pathogenic | 0.894 | pathogenic | -0.213 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| A/K | 0.9514 | likely_pathogenic | 0.9385 | pathogenic | -0.57 | Destabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| A/L | 0.7169 | likely_pathogenic | 0.668 | pathogenic | -0.213 | Destabilizing | 0.998 | D | 0.691 | prob.neutral | None | None | None | None | N |
| A/M | 0.8257 | likely_pathogenic | 0.8035 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| A/N | 0.8427 | likely_pathogenic | 0.8058 | pathogenic | -0.258 | Destabilizing | 0.995 | D | 0.777 | deleterious | None | None | None | None | N |
| A/P | 0.9384 | likely_pathogenic | 0.8978 | pathogenic | -0.204 | Destabilizing | 0.999 | D | 0.804 | deleterious | N | 0.482457365 | None | None | N |
| A/Q | 0.7913 | likely_pathogenic | 0.7659 | pathogenic | -0.455 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| A/R | 0.8597 | likely_pathogenic | 0.8375 | pathogenic | -0.221 | Destabilizing | 0.998 | D | 0.802 | deleterious | None | None | None | None | N |
| A/S | 0.2033 | likely_benign | 0.2063 | benign | -0.543 | Destabilizing | 0.977 | D | 0.504 | neutral | N | 0.409170328 | None | None | N |
| A/T | 0.5221 | ambiguous | 0.4991 | ambiguous | -0.565 | Destabilizing | 0.997 | D | 0.645 | neutral | N | 0.425198573 | None | None | N |
| A/V | 0.725 | likely_pathogenic | 0.6899 | pathogenic | -0.204 | Destabilizing | 0.989 | D | 0.64 | neutral | N | 0.458849787 | None | None | N |
| A/W | 0.972 | likely_pathogenic | 0.9657 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/Y | 0.9174 | likely_pathogenic | 0.8961 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.769 | 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.