Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24419 | 73480;73481;73482 | chr2:178572877;178572876;178572875 | chr2:179437604;179437603;179437602 |
| N2AB | 22778 | 68557;68558;68559 | chr2:178572877;178572876;178572875 | chr2:179437604;179437603;179437602 |
| N2A | 21851 | 65776;65777;65778 | chr2:178572877;178572876;178572875 | chr2:179437604;179437603;179437602 |
| N2B | 15354 | 46285;46286;46287 | chr2:178572877;178572876;178572875 | chr2:179437604;179437603;179437602 |
| Novex-1 | 15479 | 46660;46661;46662 | chr2:178572877;178572876;178572875 | chr2:179437604;179437603;179437602 |
| Novex-2 | 15546 | 46861;46862;46863 | chr2:178572877;178572876;178572875 | chr2:179437604;179437603;179437602 |
| 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 | None | None | 0.993 | D | 0.811 | 0.511 | 0.654805944736 | gnomAD-4.0.0 | 6.8436E-07 | None | None | None | None | N | None | 2.98882E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1559419207  |
None | 0.125 | D | 0.433 | 0.257 | 0.32082282376 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| A/P | rs1559419207 |
None | 0.125 | D | 0.433 | 0.257 | 0.32082282376 | gnomAD-4.0.0 | 4.10617E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52729E-05 | None | 0 | 0 | 3.59836E-06 | 0 | 1.657E-05 |
| A/S | None | None | 0.952 | D | 0.568 | 0.304 | 0.409800938858 | gnomAD-4.0.0 | 6.84362E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99591E-07 | 0 | 0 |
| A/T | rs1559419207 |
None | 0.993 | N | 0.754 | 0.243 | 0.422762650823 | gnomAD-4.0.0 | 2.73745E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59836E-06 | 0 | 0 |
| A/V | None | None | 0.976 | N | 0.615 | 0.335 | 0.472425863764 | gnomAD-4.0.0 | 6.8436E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99586E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6777 | likely_pathogenic | 0.6808 | pathogenic | -2.285 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/D | 0.9906 | likely_pathogenic | 0.9879 | pathogenic | -3.309 | Highly Destabilizing | 0.993 | D | 0.811 | deleterious | D | 0.531974741 | None | None | N |
| A/E | 0.9738 | likely_pathogenic | 0.9688 | pathogenic | -3.177 | Highly Destabilizing | 0.989 | D | 0.753 | deleterious | None | None | None | None | N |
| A/F | 0.9528 | likely_pathogenic | 0.9463 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/G | 0.4737 | ambiguous | 0.4594 | ambiguous | -1.468 | Destabilizing | 0.952 | D | 0.535 | neutral | D | 0.530453804 | None | None | N |
| A/H | 0.9917 | likely_pathogenic | 0.9906 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/I | 0.5239 | ambiguous | 0.4849 | ambiguous | -0.444 | Destabilizing | 0.995 | D | 0.812 | deleterious | None | None | None | None | N |
| A/K | 0.9898 | likely_pathogenic | 0.9885 | pathogenic | -1.474 | Destabilizing | 0.989 | D | 0.749 | deleterious | None | None | None | None | N |
| A/L | 0.5251 | ambiguous | 0.4961 | ambiguous | -0.444 | Destabilizing | 0.963 | D | 0.781 | deleterious | None | None | None | None | N |
| A/M | 0.6733 | likely_pathogenic | 0.6288 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/N | 0.9543 | likely_pathogenic | 0.9453 | pathogenic | -1.99 | Destabilizing | 0.995 | D | 0.802 | deleterious | None | None | None | None | N |
| A/P | 0.2586 | likely_benign | 0.2713 | benign | -0.659 | Destabilizing | 0.125 | N | 0.433 | neutral | D | 0.524077488 | None | None | N |
| A/Q | 0.9663 | likely_pathogenic | 0.9637 | pathogenic | -1.977 | Destabilizing | 0.995 | D | 0.813 | deleterious | None | None | None | None | N |
| A/R | 0.9767 | likely_pathogenic | 0.9753 | pathogenic | -1.306 | Destabilizing | 0.995 | D | 0.818 | deleterious | None | None | None | None | N |
| A/S | 0.3723 | ambiguous | 0.3536 | ambiguous | -2.171 | Highly Destabilizing | 0.952 | D | 0.568 | neutral | D | 0.530453804 | None | None | N |
| A/T | 0.3504 | ambiguous | 0.2841 | benign | -1.952 | Destabilizing | 0.993 | D | 0.754 | deleterious | N | 0.494699366 | None | None | N |
| A/V | 0.2075 | likely_benign | 0.1892 | benign | -0.659 | Destabilizing | 0.976 | D | 0.615 | neutral | N | 0.506011803 | None | None | N |
| A/W | 0.9953 | likely_pathogenic | 0.9951 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/Y | 0.9838 | likely_pathogenic | 0.9824 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.822 | 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.