Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28847 | 86764;86765;86766 | chr2:178559593;178559592;178559591 | chr2:179424320;179424319;179424318 |
| N2AB | 27206 | 81841;81842;81843 | chr2:178559593;178559592;178559591 | chr2:179424320;179424319;179424318 |
| N2A | 26279 | 79060;79061;79062 | chr2:178559593;178559592;178559591 | chr2:179424320;179424319;179424318 |
| N2B | 19782 | 59569;59570;59571 | chr2:178559593;178559592;178559591 | chr2:179424320;179424319;179424318 |
| Novex-1 | 19907 | 59944;59945;59946 | chr2:178559593;178559592;178559591 | chr2:179424320;179424319;179424318 |
| Novex-2 | 19974 | 60145;60146;60147 | chr2:178559593;178559592;178559591 | chr2:179424320;179424319;179424318 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs751088291  |
-0.64 | 1.0 | N | 0.823 | 0.47 | 0.620138186352 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs751088291 |
-0.64 | 1.0 | N | 0.823 | 0.47 | 0.620138186352 | 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 |
| G/R | rs751088291 |
-0.64 | 1.0 | N | 0.823 | 0.47 | 0.620138186352 | gnomAD-4.0.0 | 2.56237E-06 | None | None | None | None | N | None | 1.69125E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.3403E-05 | 0 |
| G/S | None | None | 1.0 | N | 0.737 | 0.403 | 0.303123707472 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 0 | 0 |
| G/V | rs1019894719 |
-0.254 | 1.0 | N | 0.844 | 0.464 | 0.588261199057 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/V | rs1019894719 |
-0.254 | 1.0 | N | 0.844 | 0.464 | 0.588261199057 | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 0 | 0 | 1.42544E-02 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1019894719 |
-0.254 | 1.0 | N | 0.844 | 0.464 | 0.588261199057 | gnomAD-4.0.0 | 8.54813E-05 | None | None | None | None | N | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3676 | ambiguous | 0.3323 | benign | -0.841 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.489282002 | None | None | N |
| G/C | 0.6458 | likely_pathogenic | 0.6452 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.517554475 | None | None | N |
| G/D | 0.8726 | likely_pathogenic | 0.8542 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.464350438 | None | None | N |
| G/E | 0.8739 | likely_pathogenic | 0.8556 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/F | 0.9319 | likely_pathogenic | 0.9276 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/H | 0.9411 | likely_pathogenic | 0.9325 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/I | 0.9107 | likely_pathogenic | 0.9063 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/K | 0.9607 | likely_pathogenic | 0.9519 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/L | 0.842 | likely_pathogenic | 0.8263 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/M | 0.9059 | likely_pathogenic | 0.8979 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/N | 0.8332 | likely_pathogenic | 0.8299 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/P | 0.9944 | likely_pathogenic | 0.9938 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/Q | 0.8884 | likely_pathogenic | 0.8726 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/R | 0.9155 | likely_pathogenic | 0.8989 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.504930722 | None | None | N |
| G/S | 0.2355 | likely_benign | 0.2237 | benign | -1.323 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.515376995 | None | None | N |
| G/T | 0.6966 | likely_pathogenic | 0.6908 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/V | 0.8459 | likely_pathogenic | 0.8394 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.50594468 | None | None | N |
| G/W | 0.9254 | likely_pathogenic | 0.9169 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/Y | 0.9149 | likely_pathogenic | 0.9043 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.813 | 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.