Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6860 | 20803;20804;20805 | chr2:178725626;178725625;178725624 | chr2:179590353;179590352;179590351 |
| N2AB | 6543 | 19852;19853;19854 | chr2:178725626;178725625;178725624 | chr2:179590353;179590352;179590351 |
| N2A | 5616 | 17071;17072;17073 | chr2:178725626;178725625;178725624 | chr2:179590353;179590352;179590351 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs767944090  |
-1.53 | 0.009 | N | 0.547 | 0.328 | None | gnomAD-2.1.1 | 2.17E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.74E-05 | 0 |
| L/P | rs767944090 |
-1.53 | 0.009 | N | 0.547 | 0.328 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/P | rs767944090 |
-1.53 | 0.009 | N | 0.547 | 0.328 | None | gnomAD-4.0.0 | 8.1682E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.11285E-05 | 0 | 0 |
| L/R | rs767944090 |
-0.794 | 0.896 | N | 0.691 | 0.414 | 0.631254123268 | gnomAD-2.1.1 | 4.34E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.48E-06 | 0 |
| L/R | rs767944090 |
-0.794 | 0.896 | N | 0.691 | 0.414 | 0.631254123268 | gnomAD-4.0.0 | 2.08422E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.72685E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.5567 | ambiguous | 0.6118 | pathogenic | -2.123 | Highly Destabilizing | 0.25 | N | 0.561 | neutral | None | None | None | None | N |
| L/C | 0.7568 | likely_pathogenic | 0.7632 | pathogenic | -1.496 | Destabilizing | 0.992 | D | 0.639 | neutral | None | None | None | None | N |
| L/D | 0.9632 | likely_pathogenic | 0.9746 | pathogenic | -1.666 | Destabilizing | 0.92 | D | 0.733 | prob.delet. | None | None | None | None | N |
| L/E | 0.8713 | likely_pathogenic | 0.9043 | pathogenic | -1.499 | Destabilizing | 0.92 | D | 0.719 | prob.delet. | None | None | None | None | N |
| L/F | 0.4821 | ambiguous | 0.4376 | ambiguous | -1.225 | Destabilizing | 0.85 | D | 0.629 | neutral | None | None | None | None | N |
| L/G | 0.8435 | likely_pathogenic | 0.8658 | pathogenic | -2.622 | Highly Destabilizing | 0.92 | D | 0.722 | prob.delet. | None | None | None | None | N |
| L/H | 0.8485 | likely_pathogenic | 0.8673 | pathogenic | -1.954 | Destabilizing | 0.992 | D | 0.684 | prob.neutral | None | None | None | None | N |
| L/I | 0.1037 | likely_benign | 0.1072 | benign | -0.724 | Destabilizing | 0.002 | N | 0.14 | neutral | None | None | None | None | N |
| L/K | 0.8614 | likely_pathogenic | 0.8894 | pathogenic | -1.332 | Destabilizing | 0.92 | D | 0.691 | prob.neutral | None | None | None | None | N |
| L/M | 0.1769 | likely_benign | 0.1737 | benign | -0.752 | Destabilizing | 0.81 | D | 0.598 | neutral | N | 0.478955065 | None | None | N |
| L/N | 0.8287 | likely_pathogenic | 0.8622 | pathogenic | -1.449 | Destabilizing | 0.972 | D | 0.726 | prob.delet. | None | None | None | None | N |
| L/P | 0.2297 | likely_benign | 0.321 | benign | -1.166 | Destabilizing | 0.009 | N | 0.547 | neutral | N | 0.473370083 | None | None | N |
| L/Q | 0.6923 | likely_pathogenic | 0.7412 | pathogenic | -1.39 | Destabilizing | 0.963 | D | 0.668 | neutral | N | 0.5057066 | None | None | N |
| L/R | 0.8078 | likely_pathogenic | 0.8472 | pathogenic | -1.07 | Destabilizing | 0.896 | D | 0.691 | prob.neutral | N | 0.5057066 | None | None | N |
| L/S | 0.8021 | likely_pathogenic | 0.8393 | pathogenic | -2.252 | Highly Destabilizing | 0.92 | D | 0.684 | prob.neutral | None | None | None | None | N |
| L/T | 0.6041 | likely_pathogenic | 0.6558 | pathogenic | -1.938 | Destabilizing | 0.617 | D | 0.616 | neutral | None | None | None | None | N |
| L/V | 0.1342 | likely_benign | 0.1416 | benign | -1.166 | Destabilizing | 0.002 | N | 0.153 | neutral | N | 0.516144999 | None | None | N |
| L/W | 0.7731 | likely_pathogenic | 0.7812 | pathogenic | -1.456 | Destabilizing | 0.992 | D | 0.673 | neutral | None | None | None | None | N |
| L/Y | 0.8567 | likely_pathogenic | 0.8553 | pathogenic | -1.17 | Destabilizing | 0.92 | D | 0.713 | prob.delet. | 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.