Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35473 | 106642;106643;106644 | chr2:178530074;178530073;178530072 | chr2:179394801;179394800;179394799 |
| N2AB | 33832 | 101719;101720;101721 | chr2:178530074;178530073;178530072 | chr2:179394801;179394800;179394799 |
| N2A | 32905 | 98938;98939;98940 | chr2:178530074;178530073;178530072 | chr2:179394801;179394800;179394799 |
| N2B | 26408 | 79447;79448;79449 | chr2:178530074;178530073;178530072 | chr2:179394801;179394800;179394799 |
| Novex-1 | 26533 | 79822;79823;79824 | chr2:178530074;178530073;178530072 | chr2:179394801;179394800;179394799 |
| Novex-2 | 26600 | 80023;80024;80025 | chr2:178530074;178530073;178530072 | chr2:179394801;179394800;179394799 |
| 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 | rs768859424  |
-0.662 | 0.487 | N | 0.825 | 0.39 | 0.582009938455 | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| G/R | rs768859424 |
-0.662 | 0.487 | N | 0.825 | 0.39 | 0.582009938455 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs768859424 |
-0.662 | 0.487 | N | 0.825 | 0.39 | 0.582009938455 | gnomAD-4.0.0 | 1.97174E-05 | None | None | None | None | N | None | 2.41371E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94023E-05 | 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 | 0.1188 | likely_benign | 0.1128 | benign | -0.569 | Destabilizing | 0.213 | N | 0.667 | neutral | N | 0.50798732 | None | None | N |
| G/C | 0.2853 | likely_benign | 0.2653 | benign | -0.741 | Destabilizing | 0.983 | D | 0.791 | deleterious | None | None | None | None | N |
| G/D | 0.1018 | likely_benign | 0.0964 | benign | -0.859 | Destabilizing | 0.264 | N | 0.787 | deleterious | None | None | None | None | N |
| G/E | 0.1216 | likely_benign | 0.1133 | benign | -0.889 | Destabilizing | 0.004 | N | 0.582 | neutral | N | 0.493023391 | None | None | N |
| G/F | 0.5003 | ambiguous | 0.4567 | ambiguous | -0.787 | Destabilizing | 0.983 | D | 0.807 | deleterious | None | None | None | None | N |
| G/H | 0.339 | likely_benign | 0.3194 | benign | -1.315 | Destabilizing | 0.951 | D | 0.803 | deleterious | None | None | None | None | N |
| G/I | 0.2642 | likely_benign | 0.2397 | benign | -0.085 | Destabilizing | 0.951 | D | 0.805 | deleterious | None | None | None | None | N |
| G/K | 0.3238 | likely_benign | 0.3038 | benign | -1.09 | Destabilizing | 0.557 | D | 0.792 | deleterious | None | None | None | None | N |
| G/L | 0.3874 | ambiguous | 0.3529 | ambiguous | -0.085 | Destabilizing | 0.715 | D | 0.813 | deleterious | None | None | None | None | N |
| G/M | 0.424 | ambiguous | 0.3912 | ambiguous | -0.132 | Destabilizing | 0.983 | D | 0.795 | deleterious | None | None | None | None | N |
| G/N | 0.1761 | likely_benign | 0.1627 | benign | -0.752 | Destabilizing | 0.715 | D | 0.761 | deleterious | None | None | None | None | N |
| G/P | 0.7456 | likely_pathogenic | 0.7173 | pathogenic | -0.204 | Destabilizing | 0.836 | D | 0.822 | deleterious | None | None | None | None | N |
| G/Q | 0.2544 | likely_benign | 0.2397 | benign | -0.862 | Destabilizing | 0.557 | D | 0.826 | deleterious | None | None | None | None | N |
| G/R | 0.2363 | likely_benign | 0.2255 | benign | -0.914 | Destabilizing | 0.487 | N | 0.825 | deleterious | N | 0.497760332 | None | None | N |
| G/S | 0.0954 | likely_benign | 0.093 | benign | -1.057 | Destabilizing | 0.264 | N | 0.72 | prob.delet. | None | None | None | None | N |
| G/T | 0.1426 | likely_benign | 0.1321 | benign | -0.996 | Destabilizing | 0.715 | D | 0.826 | deleterious | None | None | None | None | N |
| G/V | 0.1819 | likely_benign | 0.1692 | benign | -0.204 | Destabilizing | 0.655 | D | 0.813 | deleterious | D | 0.524765357 | None | None | N |
| G/W | 0.339 | likely_benign | 0.3331 | benign | -1.224 | Destabilizing | 0.983 | D | 0.793 | deleterious | None | None | None | None | N |
| G/Y | 0.3255 | likely_benign | 0.2988 | benign | -0.761 | Destabilizing | 0.983 | D | 0.808 | 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.