Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19674 | 59245;59246;59247 | chr2:178593188;178593187;178593186 | chr2:179457915;179457914;179457913 |
| N2AB | 18033 | 54322;54323;54324 | chr2:178593188;178593187;178593186 | chr2:179457915;179457914;179457913 |
| N2A | 17106 | 51541;51542;51543 | chr2:178593188;178593187;178593186 | chr2:179457915;179457914;179457913 |
| N2B | 10609 | 32050;32051;32052 | chr2:178593188;178593187;178593186 | chr2:179457915;179457914;179457913 |
| Novex-1 | 10734 | 32425;32426;32427 | chr2:178593188;178593187;178593186 | chr2:179457915;179457914;179457913 |
| Novex-2 | 10801 | 32626;32627;32628 | chr2:178593188;178593187;178593186 | chr2:179457915;179457914;179457913 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs746781472  |
-2.911 | 1.0 | N | 0.819 | 0.415 | 0.610735333248 | 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 |
| A/D | rs746781472 |
-2.911 | 1.0 | N | 0.819 | 0.415 | 0.610735333248 | gnomAD-4.0.0 | 1.59241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43386E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4964 | ambiguous | 0.4952 | ambiguous | -1.843 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/D | 0.997 | likely_pathogenic | 0.9962 | pathogenic | -2.793 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.512564044 | None | None | N |
| A/E | 0.9923 | likely_pathogenic | 0.9898 | pathogenic | -2.671 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/F | 0.9421 | likely_pathogenic | 0.9157 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/G | 0.5691 | likely_pathogenic | 0.5658 | pathogenic | -1.731 | Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.483824272 | None | None | N |
| A/H | 0.9921 | likely_pathogenic | 0.9904 | pathogenic | -1.752 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/I | 0.7138 | likely_pathogenic | 0.6382 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/K | 0.9971 | likely_pathogenic | 0.9961 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| A/L | 0.6149 | likely_pathogenic | 0.5462 | ambiguous | -0.429 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/M | 0.7631 | likely_pathogenic | 0.7066 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/N | 0.9853 | likely_pathogenic | 0.9824 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/P | 0.7573 | likely_pathogenic | 0.7455 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.487115955 | None | None | N |
| A/Q | 0.9742 | likely_pathogenic | 0.9693 | pathogenic | -1.725 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/R | 0.987 | likely_pathogenic | 0.9825 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/S | 0.383 | ambiguous | 0.3635 | ambiguous | -2.094 | Highly Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.483063804 | None | None | N |
| A/T | 0.5811 | likely_pathogenic | 0.5435 | ambiguous | -1.87 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.485192947 | None | None | N |
| A/V | 0.4886 | ambiguous | 0.417 | ambiguous | -0.703 | Destabilizing | 0.999 | D | 0.673 | prob.neutral | N | 0.500100898 | None | None | N |
| A/W | 0.9958 | likely_pathogenic | 0.9938 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/Y | 0.9884 | likely_pathogenic | 0.9828 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.825 | 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.