Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21296 | 64111;64112;64113 | chr2:178587325;178587324;178587323 | chr2:179452052;179452051;179452050 |
| N2AB | 19655 | 59188;59189;59190 | chr2:178587325;178587324;178587323 | chr2:179452052;179452051;179452050 |
| N2A | 18728 | 56407;56408;56409 | chr2:178587325;178587324;178587323 | chr2:179452052;179452051;179452050 |
| N2B | 12231 | 36916;36917;36918 | chr2:178587325;178587324;178587323 | chr2:179452052;179452051;179452050 |
| Novex-1 | 12356 | 37291;37292;37293 | chr2:178587325;178587324;178587323 | chr2:179452052;179452051;179452050 |
| Novex-2 | 12423 | 37492;37493;37494 | chr2:178587325;178587324;178587323 | chr2:179452052;179452051;179452050 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs727503583  |
None | 0.999 | N | 0.707 | 0.344 | 0.323342291347 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs727503583 |
None | 0.999 | N | 0.707 | 0.344 | 0.323342291347 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 5.24453E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| S/N | rs727503583 |
None | 0.999 | N | 0.707 | 0.344 | 0.323342291347 | gnomAD-4.0.0 | 1.92407E-05 | None | None | None | None | N | None | 0 | 1.86694E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.1398E-04 |
| S/R | rs750950584 |
-0.723 | 1.0 | N | 0.817 | 0.472 | 0.306053231325 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| S/R | rs750950584 |
-0.723 | 1.0 | N | 0.817 | 0.472 | 0.306053231325 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs750950584 |
-0.723 | 1.0 | N | 0.817 | 0.472 | 0.306053231325 | gnomAD-4.0.0 | 6.84596E-07 | None | None | None | None | N | None | 2.99097E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1053 | likely_benign | 0.1049 | benign | -0.764 | Destabilizing | 0.998 | D | 0.614 | neutral | None | None | None | None | N |
| S/C | 0.077 | likely_benign | 0.0792 | benign | -0.532 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.475500296 | None | None | N |
| S/D | 0.7296 | likely_pathogenic | 0.7812 | pathogenic | -0.571 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | None | None | None | None | N |
| S/E | 0.8277 | likely_pathogenic | 0.86 | pathogenic | -0.589 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | N |
| S/F | 0.3913 | ambiguous | 0.4446 | ambiguous | -1.021 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| S/G | 0.1699 | likely_benign | 0.1767 | benign | -0.994 | Destabilizing | 0.999 | D | 0.605 | neutral | N | 0.515051708 | None | None | N |
| S/H | 0.5247 | ambiguous | 0.5698 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| S/I | 0.3931 | ambiguous | 0.4515 | ambiguous | -0.262 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.498097548 | None | None | N |
| S/K | 0.8727 | likely_pathogenic | 0.8934 | pathogenic | -0.826 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | N |
| S/L | 0.1952 | likely_benign | 0.2153 | benign | -0.262 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| S/M | 0.319 | likely_benign | 0.3681 | ambiguous | 0.139 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| S/N | 0.3099 | likely_benign | 0.3809 | ambiguous | -0.769 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.488057916 | None | None | N |
| S/P | 0.9769 | likely_pathogenic | 0.9822 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| S/Q | 0.6718 | likely_pathogenic | 0.7145 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| S/R | 0.7993 | likely_pathogenic | 0.8252 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.517961514 | None | None | N |
| S/T | 0.1701 | likely_benign | 0.2015 | benign | -0.765 | Destabilizing | 0.999 | D | 0.623 | neutral | N | 0.46887725 | None | None | N |
| S/V | 0.3091 | likely_benign | 0.3516 | ambiguous | -0.397 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| S/W | 0.6487 | likely_pathogenic | 0.6732 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| S/Y | 0.3904 | ambiguous | 0.4354 | ambiguous | -0.736 | Destabilizing | 1.0 | D | 0.842 | 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.