Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18144 | 54655;54656;54657 | chr2:178604257;178604256;178604255 | chr2:179468984;179468983;179468982 |
| N2AB | 16503 | 49732;49733;49734 | chr2:178604257;178604256;178604255 | chr2:179468984;179468983;179468982 |
| N2A | 15576 | 46951;46952;46953 | chr2:178604257;178604256;178604255 | chr2:179468984;179468983;179468982 |
| N2B | 9079 | 27460;27461;27462 | chr2:178604257;178604256;178604255 | chr2:179468984;179468983;179468982 |
| Novex-1 | 9204 | 27835;27836;27837 | chr2:178604257;178604256;178604255 | chr2:179468984;179468983;179468982 |
| Novex-2 | 9271 | 28036;28037;28038 | chr2:178604257;178604256;178604255 | chr2:179468984;179468983;179468982 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.826 | N | 0.447 | 0.245 | 0.566992445632 | gnomAD-4.0.0 | 1.41282E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.83983E-06 | 0 | 0 |
| V/M | rs758363721  |
-1.085 | 0.996 | D | 0.532 | 0.317 | 0.605049500696 | gnomAD-2.1.1 | 9.25E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.99E-05 | 0 |
| V/M | rs758363721 |
-1.085 | 0.996 | D | 0.532 | 0.317 | 0.605049500696 | gnomAD-4.0.0 | 3.4305E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.07307E-06 | 1.6176E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3764 | ambiguous | 0.2909 | benign | -2.022 | Highly Destabilizing | 0.826 | D | 0.447 | neutral | N | 0.511753191 | None | None | N |
| V/C | 0.823 | likely_pathogenic | 0.7779 | pathogenic | -1.744 | Destabilizing | 0.999 | D | 0.54 | neutral | None | None | None | None | N |
| V/D | 0.928 | likely_pathogenic | 0.9063 | pathogenic | -2.895 | Highly Destabilizing | 0.884 | D | 0.533 | neutral | None | None | None | None | N |
| V/E | 0.4813 | ambiguous | 0.4547 | ambiguous | -2.743 | Highly Destabilizing | 0.061 | N | 0.329 | neutral | N | 0.420421898 | None | None | N |
| V/F | 0.4812 | ambiguous | 0.4171 | ambiguous | -1.278 | Destabilizing | 0.997 | D | 0.567 | neutral | None | None | None | None | N |
| V/G | 0.6758 | likely_pathogenic | 0.6208 | pathogenic | -2.472 | Highly Destabilizing | 0.959 | D | 0.583 | neutral | N | 0.483483375 | None | None | N |
| V/H | 0.8956 | likely_pathogenic | 0.8599 | pathogenic | -2.166 | Highly Destabilizing | 0.991 | D | 0.618 | neutral | None | None | None | None | N |
| V/I | 0.0901 | likely_benign | 0.0832 | benign | -0.791 | Destabilizing | 0.99 | D | 0.52 | neutral | None | None | None | None | N |
| V/K | 0.6138 | likely_pathogenic | 0.6177 | pathogenic | -1.636 | Destabilizing | 0.884 | D | 0.502 | neutral | None | None | None | None | N |
| V/L | 0.5 | ambiguous | 0.4408 | ambiguous | -0.791 | Destabilizing | 0.906 | D | 0.488 | neutral | N | 0.505787224 | None | None | N |
| V/M | 0.2371 | likely_benign | 0.2033 | benign | -0.902 | Destabilizing | 0.996 | D | 0.532 | neutral | D | 0.525453207 | None | None | N |
| V/N | 0.7919 | likely_pathogenic | 0.7382 | pathogenic | -1.885 | Destabilizing | 0.991 | D | 0.604 | neutral | None | None | None | None | N |
| V/P | 0.9942 | likely_pathogenic | 0.9915 | pathogenic | -1.175 | Destabilizing | 0.997 | D | 0.573 | neutral | None | None | None | None | N |
| V/Q | 0.4496 | ambiguous | 0.4177 | ambiguous | -1.844 | Destabilizing | 0.373 | N | 0.368 | neutral | None | None | None | None | N |
| V/R | 0.6074 | likely_pathogenic | 0.5961 | pathogenic | -1.345 | Destabilizing | 0.982 | D | 0.606 | neutral | None | None | None | None | N |
| V/S | 0.5634 | ambiguous | 0.4722 | ambiguous | -2.41 | Highly Destabilizing | 0.939 | D | 0.532 | neutral | None | None | None | None | N |
| V/T | 0.3941 | ambiguous | 0.3413 | ambiguous | -2.139 | Highly Destabilizing | 0.969 | D | 0.501 | neutral | None | None | None | None | N |
| V/W | 0.972 | likely_pathogenic | 0.9561 | pathogenic | -1.769 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| V/Y | 0.8543 | likely_pathogenic | 0.8109 | pathogenic | -1.431 | Destabilizing | 0.997 | D | 0.574 | neutral | 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.