Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13830 | 41713;41714;41715 | chr2:178636083;178636082;178636081 | chr2:179500810;179500809;179500808 |
| N2AB | 12189 | 36790;36791;36792 | chr2:178636083;178636082;178636081 | chr2:179500810;179500809;179500808 |
| N2A | 11262 | 34009;34010;34011 | chr2:178636083;178636082;178636081 | chr2:179500810;179500809;179500808 |
| N2B | 4765 | 14518;14519;14520 | chr2:178636083;178636082;178636081 | chr2:179500810;179500809;179500808 |
| Novex-1 | 4890 | 14893;14894;14895 | chr2:178636083;178636082;178636081 | chr2:179500810;179500809;179500808 |
| Novex-2 | 4957 | 15094;15095;15096 | chr2:178636083;178636082;178636081 | chr2:179500810;179500809;179500808 |
| 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/F | None | None | 0.959 | N | 0.52 | 0.134 | 0.251639045875 | gnomAD-4.0.0 | 6.84405E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65689E-05 |
| V/I | rs149059189  |
-0.11 | 0.019 | N | 0.081 | 0.03 | None | gnomAD-2.1.1 | 1.57289E-04 | None | None | None | None | N | None | 1.40635E-03 | 1.13205E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.91E-05 | 1.40489E-04 |
| V/I | rs149059189 |
-0.11 | 0.019 | N | 0.081 | 0.03 | None | gnomAD-3.1.2 | 4.01295E-04 | None | None | None | None | N | None | 1.2558E-03 | 1.31216E-04 | 0 | 0 | 1.93874E-04 | None | 0 | 0 | 7.36E-05 | 0 | 4.78927E-04 |
| V/I | rs149059189 |
-0.11 | 0.019 | N | 0.081 | 0.03 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | rs149059189 |
-0.11 | 0.019 | N | 0.081 | 0.03 | None | gnomAD-4.0.0 | 7.81032E-05 | None | None | None | None | N | None | 1.26711E-03 | 8.33722E-05 | None | 0 | 2.23674E-05 | None | 0 | 0 | 1.44126E-05 | 1.09844E-05 | 1.12065E-04 |
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 | 0.3857 | ambiguous | 0.4382 | ambiguous | -0.416 | Destabilizing | 0.517 | D | 0.398 | neutral | N | 0.348569358 | None | None | N |
| V/C | 0.8424 | likely_pathogenic | 0.8717 | pathogenic | -0.7 | Destabilizing | 0.996 | D | 0.495 | neutral | None | None | None | None | N |
| V/D | 0.5183 | ambiguous | 0.5832 | pathogenic | -0.072 | Destabilizing | 0.949 | D | 0.681 | prob.neutral | N | 0.328548715 | None | None | N |
| V/E | 0.44 | ambiguous | 0.4854 | ambiguous | -0.179 | Destabilizing | 0.961 | D | 0.588 | neutral | None | None | None | None | N |
| V/F | 0.1977 | likely_benign | 0.2363 | benign | -0.599 | Destabilizing | 0.959 | D | 0.52 | neutral | N | 0.338098895 | None | None | N |
| V/G | 0.4302 | ambiguous | 0.4646 | ambiguous | -0.546 | Destabilizing | 0.949 | D | 0.553 | neutral | N | 0.309620729 | None | None | N |
| V/H | 0.7221 | likely_pathogenic | 0.7842 | pathogenic | -0.109 | Destabilizing | 0.996 | D | 0.726 | deleterious | None | None | None | None | N |
| V/I | 0.0644 | likely_benign | 0.0695 | benign | -0.226 | Destabilizing | 0.019 | N | 0.081 | neutral | N | 0.350862806 | None | None | N |
| V/K | 0.47 | ambiguous | 0.528 | ambiguous | -0.367 | Destabilizing | 0.961 | D | 0.607 | neutral | None | None | None | None | N |
| V/L | 0.2731 | likely_benign | 0.308 | benign | -0.226 | Destabilizing | 0.17 | N | 0.387 | neutral | N | 0.336219412 | None | None | N |
| V/M | 0.1786 | likely_benign | 0.2004 | benign | -0.347 | Destabilizing | 0.923 | D | 0.497 | neutral | None | None | None | None | N |
| V/N | 0.3335 | likely_benign | 0.3826 | ambiguous | -0.174 | Destabilizing | 0.961 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/P | 0.8829 | likely_pathogenic | 0.9035 | pathogenic | -0.255 | Destabilizing | 0.987 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/Q | 0.4771 | ambiguous | 0.5217 | ambiguous | -0.388 | Destabilizing | 0.987 | D | 0.705 | prob.delet. | None | None | None | None | N |
| V/R | 0.455 | ambiguous | 0.5102 | ambiguous | 0.103 | Stabilizing | 0.961 | D | 0.698 | prob.delet. | None | None | None | None | N |
| V/S | 0.3944 | ambiguous | 0.4421 | ambiguous | -0.565 | Destabilizing | 0.633 | D | 0.563 | neutral | None | None | None | None | N |
| V/T | 0.3344 | likely_benign | 0.3743 | ambiguous | -0.567 | Destabilizing | 0.044 | N | 0.173 | neutral | None | None | None | None | N |
| V/W | 0.9007 | likely_pathogenic | 0.9288 | pathogenic | -0.677 | Destabilizing | 0.996 | D | 0.743 | deleterious | None | None | None | None | N |
| V/Y | 0.6392 | likely_pathogenic | 0.7066 | pathogenic | -0.375 | Destabilizing | 0.961 | D | 0.511 | 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.