Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21395 | 64408;64409;64410 | chr2:178586718;178586717;178586716 | chr2:179451445;179451444;179451443 |
| N2AB | 19754 | 59485;59486;59487 | chr2:178586718;178586717;178586716 | chr2:179451445;179451444;179451443 |
| N2A | 18827 | 56704;56705;56706 | chr2:178586718;178586717;178586716 | chr2:179451445;179451444;179451443 |
| N2B | 12330 | 37213;37214;37215 | chr2:178586718;178586717;178586716 | chr2:179451445;179451444;179451443 |
| Novex-1 | 12455 | 37588;37589;37590 | chr2:178586718;178586717;178586716 | chr2:179451445;179451444;179451443 |
| Novex-2 | 12522 | 37789;37790;37791 | chr2:178586718;178586717;178586716 | chr2:179451445;179451444;179451443 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs769161359  |
0.008 | 1.0 | N | 0.608 | 0.428 | 0.395441342475 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/A | rs769161359 |
0.008 | 1.0 | N | 0.608 | 0.428 | 0.395441342475 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs769161359 |
0.008 | 1.0 | N | 0.608 | 0.428 | 0.395441342475 | gnomAD-4.0.0 | 1.23992E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47903E-07 | 1.09823E-05 | 0 |
| G/D | None | None | 1.0 | N | 0.682 | 0.486 | None | gnomAD-4.0.0 | 1.36897E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73732E-04 | 0 | 1.15964E-05 | 0 |
| G/S | rs199863338 |
None | 1.0 | N | 0.695 | 0.434 | 0.404034981753 | gnomAD-4.0.0 | 6.84486E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99774E-07 | 0 | 0 |
| G/V | rs769161359 |
None | 1.0 | D | 0.789 | 0.501 | 0.708478496362 | gnomAD-4.0.0 | 4.7914E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29842E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9238 | likely_pathogenic | 0.8901 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.608 | neutral | N | 0.489639121 | None | None | I |
| G/C | 0.9676 | likely_pathogenic | 0.9481 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.532964429 | None | None | I |
| G/D | 0.9833 | likely_pathogenic | 0.9724 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | N | 0.505452425 | None | None | I |
| G/E | 0.9889 | likely_pathogenic | 0.9815 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/F | 0.9898 | likely_pathogenic | 0.988 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/H | 0.992 | likely_pathogenic | 0.986 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/I | 0.9869 | likely_pathogenic | 0.9839 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/K | 0.9905 | likely_pathogenic | 0.985 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/L | 0.9856 | likely_pathogenic | 0.9807 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/M | 0.9913 | likely_pathogenic | 0.9872 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/N | 0.9769 | likely_pathogenic | 0.9629 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | I |
| G/P | 0.998 | likely_pathogenic | 0.9974 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Q | 0.9865 | likely_pathogenic | 0.9764 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/R | 0.9766 | likely_pathogenic | 0.9638 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.505959404 | None | None | I |
| G/S | 0.8798 | likely_pathogenic | 0.801 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.500172506 | None | None | I |
| G/T | 0.9692 | likely_pathogenic | 0.9536 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/V | 0.9806 | likely_pathogenic | 0.9752 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.551068684 | None | None | I |
| G/W | 0.9849 | likely_pathogenic | 0.9821 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/Y | 0.9884 | likely_pathogenic | 0.9832 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.772 | 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.