Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34949 | 105070;105071;105072 | chr2:178531770;178531769;178531768 | chr2:179396497;179396496;179396495 |
| N2AB | 33308 | 100147;100148;100149 | chr2:178531770;178531769;178531768 | chr2:179396497;179396496;179396495 |
| N2A | 32381 | 97366;97367;97368 | chr2:178531770;178531769;178531768 | chr2:179396497;179396496;179396495 |
| N2B | 25884 | 77875;77876;77877 | chr2:178531770;178531769;178531768 | chr2:179396497;179396496;179396495 |
| Novex-1 | 26009 | 78250;78251;78252 | chr2:178531770;178531769;178531768 | chr2:179396497;179396496;179396495 |
| Novex-2 | 26076 | 78451;78452;78453 | chr2:178531770;178531769;178531768 | chr2:179396497;179396496;179396495 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs576270358  |
-0.395 | 1.0 | N | 0.754 | 0.577 | 0.813736607915 | gnomAD-2.1.1 | 2.81E-05 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 2.22643E-04 | None | 0 | None | 0 | 0 | 1.65289E-04 |
| R/C | rs576270358 |
-0.395 | 1.0 | N | 0.754 | 0.577 | 0.813736607915 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.30856E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/C | rs576270358 |
-0.395 | 1.0 | N | 0.754 | 0.577 | 0.813736607915 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/C | rs576270358 |
-0.395 | 1.0 | N | 0.754 | 0.577 | 0.813736607915 | gnomAD-4.0.0 | 1.61093E-05 | None | None | None | None | N | None | 0 | 1.4994E-04 | None | 0 | 1.33702E-04 | None | 0 | 3.30033E-04 | 6.78039E-06 | 1.09794E-05 | 0 |
| R/H | rs375818056 |
-1.756 | 1.0 | N | 0.745 | 0.482 | None | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| R/H | rs375818056 |
-1.756 | 1.0 | N | 0.745 | 0.482 | 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 |
| R/H | rs375818056 |
-1.756 | 1.0 | N | 0.745 | 0.482 | None | gnomAD-4.0.0 | 7.43522E-06 | None | None | None | None | N | None | 2.66596E-05 | 3.33289E-05 | None | 0 | 0 | None | 0 | 0 | 5.08531E-06 | 0 | 3.20072E-05 |
| R/P | None | None | 1.0 | N | 0.708 | 0.555 | 0.703194571136 | gnomAD-4.0.0 | 6.8414E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99399E-07 | 0 | 0 |
| R/S | rs576270358 |
None | 1.0 | N | 0.666 | 0.526 | 0.532168211543 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | rs576270358 |
None | 1.0 | N | 0.666 | 0.526 | 0.532168211543 | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9399 | likely_pathogenic | 0.9565 | pathogenic | 0.101 | Stabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| R/C | 0.7264 | likely_pathogenic | 0.8099 | pathogenic | 0.014 | Stabilizing | 1.0 | D | 0.754 | deleterious | N | 0.49335624 | None | None | N |
| R/D | 0.9778 | likely_pathogenic | 0.9839 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| R/E | 0.9075 | likely_pathogenic | 0.9327 | pathogenic | 0.117 | Stabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| R/F | 0.9572 | likely_pathogenic | 0.9703 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| R/G | 0.8693 | likely_pathogenic | 0.9053 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.589 | neutral | N | 0.487315852 | None | None | N |
| R/H | 0.4025 | ambiguous | 0.4792 | ambiguous | -0.784 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.487315852 | None | None | N |
| R/I | 0.9014 | likely_pathogenic | 0.9354 | pathogenic | 0.748 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| R/K | 0.4678 | ambiguous | 0.5196 | ambiguous | 0.116 | Stabilizing | 0.998 | D | 0.521 | neutral | None | None | None | None | N |
| R/L | 0.8056 | likely_pathogenic | 0.853 | pathogenic | 0.748 | Stabilizing | 1.0 | D | 0.589 | neutral | N | 0.487569342 | None | None | N |
| R/M | 0.9234 | likely_pathogenic | 0.9528 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| R/N | 0.9551 | likely_pathogenic | 0.9669 | pathogenic | 0.309 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| R/P | 0.9465 | likely_pathogenic | 0.9606 | pathogenic | 0.555 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.499090231 | None | None | N |
| R/Q | 0.4505 | ambiguous | 0.5252 | ambiguous | 0.291 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| R/S | 0.9485 | likely_pathogenic | 0.9659 | pathogenic | -0.017 | Destabilizing | 1.0 | D | 0.666 | neutral | N | 0.460484583 | None | None | N |
| R/T | 0.9178 | likely_pathogenic | 0.9458 | pathogenic | 0.249 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| R/V | 0.91 | likely_pathogenic | 0.9395 | pathogenic | 0.555 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| R/W | 0.7483 | likely_pathogenic | 0.8192 | pathogenic | 0.06 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| R/Y | 0.8913 | likely_pathogenic | 0.9166 | pathogenic | 0.454 | Stabilizing | 1.0 | D | 0.727 | 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.