Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1137 | 3634;3635;3636 | chr2:178781235;178781234;178781233 | chr2:179645962;179645961;179645960 |
| N2AB | 1137 | 3634;3635;3636 | chr2:178781235;178781234;178781233 | chr2:179645962;179645961;179645960 |
| N2A | 1137 | 3634;3635;3636 | chr2:178781235;178781234;178781233 | chr2:179645962;179645961;179645960 |
| N2B | 1091 | 3496;3497;3498 | chr2:178781235;178781234;178781233 | chr2:179645962;179645961;179645960 |
| Novex-1 | 1091 | 3496;3497;3498 | chr2:178781235;178781234;178781233 | chr2:179645962;179645961;179645960 |
| Novex-2 | 1091 | 3496;3497;3498 | chr2:178781235;178781234;178781233 | chr2:179645962;179645961;179645960 |
| Novex-3 | 1137 | 3634;3635;3636 | chr2:178781235;178781234;178781233 | chr2:179645962;179645961;179645960 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.699 | 0.515 | 0.3571064206 | gnomAD-4.0.0 | 1.36825E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79867E-06 | 0 | 0 |
| G/D | rs864309575  |
None | 1.0 | N | 0.829 | 0.616 | 0.378498632473 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/D | rs864309575 |
None | 1.0 | N | 0.829 | 0.616 | 0.378498632473 | gnomAD-4.0.0 | 3.71741E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08493E-06 | 0 | 0 |
| G/R | rs72647870 |
-0.95 | 1.0 | D | 0.805 | 0.71 | None | gnomAD-2.1.1 | 2.24058E-03 | None | None | None | None | N | None | 2.80381E-04 | 6.77469E-04 | None | 1.73678E-03 | 0 | None | 3.27E-05 | None | 3.90283E-03 | 3.63752E-03 | 2.21976E-03 |
| G/R | rs72647870 |
-0.95 | 1.0 | D | 0.805 | 0.71 | None | gnomAD-3.1.2 | 2.294E-03 | None | None | None | None | N | None | 3.61987E-04 | 9.8219E-04 | 0 | 3.4622E-03 | 0 | None | 3.86865E-03 | 3.16456E-03 | 3.85147E-03 | 0 | 1.43678E-03 |
| G/R | rs72647870 |
-0.95 | 1.0 | D | 0.805 | 0.71 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 5E-03 | None | None | None | 0 | None |
| G/R | rs72647870 |
-0.95 | 1.0 | D | 0.805 | 0.71 | None | gnomAD-4.0.0 | 3.01681E-03 | None | None | None | None | N | None | 3.86481E-04 | 7.4985E-04 | None | 1.8924E-03 | 0 | None | 4.10938E-03 | 1.65017E-04 | 3.63666E-03 | 2.19597E-05 | 2.91209E-03 |
| G/S | rs72647870 |
-1.622 | 1.0 | N | 0.745 | 0.565 | 0.353125101423 | gnomAD-2.1.1 | 2.39E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.09051E-04 | None | 3.27E-05 | None | 0 | 2.64E-05 | 0 |
| G/S | rs72647870 |
-1.622 | 1.0 | N | 0.745 | 0.565 | 0.353125101423 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs72647870 |
-1.622 | 1.0 | N | 0.745 | 0.565 | 0.353125101423 | gnomAD-4.0.0 | 2.41658E-05 | None | None | None | None | N | None | 1.33486E-05 | 0 | None | 0 | 4.45911E-05 | None | 0 | 0 | 2.88148E-05 | 2.19587E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6724 | likely_pathogenic | 0.654 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.553363523 | None | None | N |
| G/C | 0.9259 | likely_pathogenic | 0.9142 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.689304282 | None | None | N |
| G/D | 0.9531 | likely_pathogenic | 0.9359 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.510242315 | None | None | N |
| G/E | 0.9432 | likely_pathogenic | 0.9296 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/F | 0.9934 | likely_pathogenic | 0.9921 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/H | 0.9788 | likely_pathogenic | 0.9746 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/I | 0.993 | likely_pathogenic | 0.9923 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/K | 0.973 | likely_pathogenic | 0.9654 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/L | 0.9773 | likely_pathogenic | 0.9724 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/M | 0.9821 | likely_pathogenic | 0.9789 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/N | 0.916 | likely_pathogenic | 0.8992 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/P | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/Q | 0.9301 | likely_pathogenic | 0.917 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/R | 0.9197 | likely_pathogenic | 0.9057 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.574181807 | None | None | N |
| G/S | 0.5349 | ambiguous | 0.5256 | ambiguous | -1.422 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.506089358 | None | None | N |
| G/T | 0.9359 | likely_pathogenic | 0.9317 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/V | 0.9806 | likely_pathogenic | 0.9789 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.595741526 | None | None | N |
| G/W | 0.9771 | likely_pathogenic | 0.976 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/Y | 0.9867 | likely_pathogenic | 0.9845 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.774 | deleterious | 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.