Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21533 | 64822;64823;64824 | chr2:178585147;178585146;178585145 | chr2:179449874;179449873;179449872 |
| N2AB | 19892 | 59899;59900;59901 | chr2:178585147;178585146;178585145 | chr2:179449874;179449873;179449872 |
| N2A | 18965 | 57118;57119;57120 | chr2:178585147;178585146;178585145 | chr2:179449874;179449873;179449872 |
| N2B | 12468 | 37627;37628;37629 | chr2:178585147;178585146;178585145 | chr2:179449874;179449873;179449872 |
| Novex-1 | 12593 | 38002;38003;38004 | chr2:178585147;178585146;178585145 | chr2:179449874;179449873;179449872 |
| Novex-2 | 12660 | 38203;38204;38205 | chr2:178585147;178585146;178585145 | chr2:179449874;179449873;179449872 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | rs1484580543  |
0.733 | 1.0 | D | 0.841 | 0.573 | 0.854310461085 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| D/Y | rs1484580543 |
0.733 | 1.0 | D | 0.841 | 0.573 | 0.854310461085 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86064E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9217 | likely_pathogenic | 0.9125 | pathogenic | 0.527 | Stabilizing | 1.0 | D | 0.837 | deleterious | D | 0.618102214 | None | None | N |
| D/C | 0.9674 | likely_pathogenic | 0.96 | pathogenic | 0.414 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/E | 0.8549 | likely_pathogenic | 0.83 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.569 | neutral | D | 0.587638642 | None | None | N |
| D/F | 0.9673 | likely_pathogenic | 0.9711 | pathogenic | 1.203 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/G | 0.9388 | likely_pathogenic | 0.9348 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.778 | deleterious | D | 0.618304018 | None | None | N |
| D/H | 0.7424 | likely_pathogenic | 0.705 | pathogenic | 0.754 | Stabilizing | 1.0 | D | 0.824 | deleterious | D | 0.577951344 | None | None | N |
| D/I | 0.9778 | likely_pathogenic | 0.977 | pathogenic | 1.82 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/K | 0.9855 | likely_pathogenic | 0.9842 | pathogenic | 0.221 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/L | 0.9751 | likely_pathogenic | 0.9733 | pathogenic | 1.82 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/M | 0.9835 | likely_pathogenic | 0.9818 | pathogenic | 2.205 | Highly Stabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| D/N | 0.6478 | likely_pathogenic | 0.5971 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.587235033 | None | None | N |
| D/P | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | 1.42 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/Q | 0.9517 | likely_pathogenic | 0.9443 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| D/R | 0.9887 | likely_pathogenic | 0.9888 | pathogenic | 0.185 | Stabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| D/S | 0.8512 | likely_pathogenic | 0.8336 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/T | 0.9646 | likely_pathogenic | 0.9612 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| D/V | 0.9436 | likely_pathogenic | 0.9418 | pathogenic | 1.42 | Stabilizing | 1.0 | D | 0.84 | deleterious | D | 0.634726987 | None | None | N |
| D/W | 0.992 | likely_pathogenic | 0.9936 | pathogenic | 1.192 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/Y | 0.7375 | likely_pathogenic | 0.7529 | pathogenic | 1.455 | Stabilizing | 1.0 | D | 0.841 | deleterious | D | 0.608987071 | 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.