Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26980 | 81163;81164;81165 | chr2:178565194;178565193;178565192 | chr2:179429921;179429920;179429919 |
| N2AB | 25339 | 76240;76241;76242 | chr2:178565194;178565193;178565192 | chr2:179429921;179429920;179429919 |
| N2A | 24412 | 73459;73460;73461 | chr2:178565194;178565193;178565192 | chr2:179429921;179429920;179429919 |
| N2B | 17915 | 53968;53969;53970 | chr2:178565194;178565193;178565192 | chr2:179429921;179429920;179429919 |
| Novex-1 | 18040 | 54343;54344;54345 | chr2:178565194;178565193;178565192 | chr2:179429921;179429920;179429919 |
| Novex-2 | 18107 | 54544;54545;54546 | chr2:178565194;178565193;178565192 | chr2:179429921;179429920;179429919 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.958 | N | 0.673 | 0.532 | 0.558774299873 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 1.01626E-03 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/F | None | None | 0.988 | N | 0.784 | 0.45 | 0.732264830674 | gnomAD-4.0.0 | 6.84313E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87364E-05 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.067 | N | 0.309 | 0.097 | 0.28058544554 | gnomAD-4.0.0 | 2.05294E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69866E-06 | 0 | 0 |
| V/L | None | None | 0.618 | N | 0.634 | 0.151 | 0.247322355667 | gnomAD-4.0.0 | 6.84313E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52143E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.731 | likely_pathogenic | 0.6677 | pathogenic | -1.592 | Destabilizing | 0.958 | D | 0.673 | neutral | N | 0.495063036 | None | None | N |
| V/C | 0.9225 | likely_pathogenic | 0.9047 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/D | 0.9931 | likely_pathogenic | 0.9919 | pathogenic | -1.832 | Destabilizing | 0.998 | D | 0.825 | deleterious | N | 0.515889542 | None | None | N |
| V/E | 0.9818 | likely_pathogenic | 0.9804 | pathogenic | -1.584 | Destabilizing | 0.998 | D | 0.807 | deleterious | None | None | None | None | N |
| V/F | 0.7462 | likely_pathogenic | 0.7307 | pathogenic | -0.769 | Destabilizing | 0.988 | D | 0.784 | deleterious | N | 0.488124049 | None | None | N |
| V/G | 0.8856 | likely_pathogenic | 0.8664 | pathogenic | -2.156 | Highly Destabilizing | 0.994 | D | 0.809 | deleterious | D | 0.5281709 | None | None | N |
| V/H | 0.994 | likely_pathogenic | 0.9928 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/I | 0.0943 | likely_benign | 0.0881 | benign | -0.021 | Destabilizing | 0.067 | N | 0.309 | neutral | N | 0.459417429 | None | None | N |
| V/K | 0.9882 | likely_pathogenic | 0.9875 | pathogenic | -1.24 | Destabilizing | 0.995 | D | 0.805 | deleterious | None | None | None | None | N |
| V/L | 0.4459 | ambiguous | 0.3838 | ambiguous | -0.021 | Destabilizing | 0.618 | D | 0.634 | neutral | N | 0.459464997 | None | None | N |
| V/M | 0.5562 | ambiguous | 0.4915 | ambiguous | -0.206 | Destabilizing | 0.991 | D | 0.761 | deleterious | None | None | None | None | N |
| V/N | 0.9779 | likely_pathogenic | 0.9718 | pathogenic | -1.589 | Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | N |
| V/P | 0.8766 | likely_pathogenic | 0.833 | pathogenic | -0.516 | Destabilizing | 0.998 | D | 0.828 | deleterious | None | None | None | None | N |
| V/Q | 0.9815 | likely_pathogenic | 0.9792 | pathogenic | -1.334 | Destabilizing | 0.998 | D | 0.842 | deleterious | None | None | None | None | N |
| V/R | 0.9802 | likely_pathogenic | 0.9809 | pathogenic | -1.321 | Destabilizing | 0.998 | D | 0.839 | deleterious | None | None | None | None | N |
| V/S | 0.9222 | likely_pathogenic | 0.9002 | pathogenic | -2.244 | Highly Destabilizing | 0.995 | D | 0.809 | deleterious | None | None | None | None | N |
| V/T | 0.8463 | likely_pathogenic | 0.8025 | pathogenic | -1.836 | Destabilizing | 0.968 | D | 0.744 | deleterious | None | None | None | None | N |
| V/W | 0.9951 | likely_pathogenic | 0.9941 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Y | 0.9766 | likely_pathogenic | 0.9734 | pathogenic | -0.832 | Destabilizing | 0.995 | D | 0.815 | 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.