Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27501 | 82726;82727;82728 | chr2:178563631;178563630;178563629 | chr2:179428358;179428357;179428356 |
| N2AB | 25860 | 77803;77804;77805 | chr2:178563631;178563630;178563629 | chr2:179428358;179428357;179428356 |
| N2A | 24933 | 75022;75023;75024 | chr2:178563631;178563630;178563629 | chr2:179428358;179428357;179428356 |
| N2B | 18436 | 55531;55532;55533 | chr2:178563631;178563630;178563629 | chr2:179428358;179428357;179428356 |
| Novex-1 | 18561 | 55906;55907;55908 | chr2:178563631;178563630;178563629 | chr2:179428358;179428357;179428356 |
| Novex-2 | 18628 | 56107;56108;56109 | chr2:178563631;178563630;178563629 | chr2:179428358;179428357;179428356 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs768922879  |
-1.12 | 0.998 | D | 0.705 | 0.461 | 0.505765104075 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| I/M | rs768922879 |
-1.12 | 0.998 | D | 0.705 | 0.461 | 0.505765104075 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.93798E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/M | rs768922879 |
-1.12 | 0.998 | D | 0.705 | 0.461 | 0.505765104075 | gnomAD-4.0.0 | 6.5786E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.93798E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | None | None | 0.989 | D | 0.783 | 0.56 | 0.729170019825 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.7639 | likely_pathogenic | 0.8014 | pathogenic | -2.508 | Highly Destabilizing | 0.992 | D | 0.67 | neutral | None | None | None | None | I |
| I/C | 0.9645 | likely_pathogenic | 0.9686 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| I/D | 0.9915 | likely_pathogenic | 0.992 | pathogenic | -2.699 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| I/E | 0.9756 | likely_pathogenic | 0.9748 | pathogenic | -2.591 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| I/F | 0.8095 | likely_pathogenic | 0.8041 | pathogenic | -1.634 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | D | 0.54593276 | None | None | I |
| I/G | 0.9741 | likely_pathogenic | 0.9776 | pathogenic | -2.953 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| I/H | 0.9895 | likely_pathogenic | 0.9896 | pathogenic | -2.264 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| I/K | 0.9635 | likely_pathogenic | 0.9602 | pathogenic | -1.909 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| I/L | 0.3508 | ambiguous | 0.3418 | ambiguous | -1.267 | Destabilizing | 0.889 | D | 0.431 | neutral | N | 0.481402552 | None | None | I |
| I/M | 0.299 | likely_benign | 0.3146 | benign | -0.991 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | D | 0.548467656 | None | None | I |
| I/N | 0.9178 | likely_pathogenic | 0.9149 | pathogenic | -1.926 | Destabilizing | 0.999 | D | 0.828 | deleterious | D | 0.560837919 | None | None | I |
| I/P | 0.887 | likely_pathogenic | 0.8893 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| I/Q | 0.9733 | likely_pathogenic | 0.9737 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| I/R | 0.9505 | likely_pathogenic | 0.9473 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| I/S | 0.894 | likely_pathogenic | 0.908 | pathogenic | -2.553 | Highly Destabilizing | 0.998 | D | 0.803 | deleterious | D | 0.541973196 | None | None | I |
| I/T | 0.5806 | likely_pathogenic | 0.6266 | pathogenic | -2.326 | Highly Destabilizing | 0.989 | D | 0.783 | deleterious | D | 0.523868941 | None | None | I |
| I/V | 0.1221 | likely_benign | 0.1447 | benign | -1.658 | Destabilizing | 0.333 | N | 0.251 | neutral | N | 0.515790787 | None | None | I |
| I/W | 0.9882 | likely_pathogenic | 0.9893 | pathogenic | -1.911 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| I/Y | 0.9659 | likely_pathogenic | 0.9636 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
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.