Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17176 | 51751;51752;51753 | chr2:178609897;178609896;178609895 | chr2:179474624;179474623;179474622 |
| N2AB | 15535 | 46828;46829;46830 | chr2:178609897;178609896;178609895 | chr2:179474624;179474623;179474622 |
| N2A | 14608 | 44047;44048;44049 | chr2:178609897;178609896;178609895 | chr2:179474624;179474623;179474622 |
| N2B | 8111 | 24556;24557;24558 | chr2:178609897;178609896;178609895 | chr2:179474624;179474623;179474622 |
| Novex-1 | 8236 | 24931;24932;24933 | chr2:178609897;178609896;178609895 | chr2:179474624;179474623;179474622 |
| Novex-2 | 8303 | 25132;25133;25134 | chr2:178609897;178609896;178609895 | chr2:179474624;179474623;179474622 |
| 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 | rs768961892  |
0.171 | 1.0 | N | 0.621 | 0.473 | 0.366848117066 | gnomAD-2.1.1 | 2.37524E-04 | None | None | None | None | I | None | 0 | 1.47817E-03 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 1.16163E-03 |
| G/A | rs768961892 |
0.171 | 1.0 | N | 0.621 | 0.473 | 0.366848117066 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs768961892 |
0.171 | 1.0 | N | 0.621 | 0.473 | 0.366848117066 | gnomAD-4.0.0 | 4.03007E-05 | None | None | None | None | I | None | 0 | 9.84088E-04 | None | 0 | 0 | None | 0 | 0 | 8.47991E-07 | 0 | 8.01205E-05 |
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 | 0.9384 | likely_pathogenic | 0.8423 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.495399566 | None | None | I |
| G/C | 0.9767 | likely_pathogenic | 0.9156 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/D | 0.9836 | likely_pathogenic | 0.948 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/E | 0.9905 | likely_pathogenic | 0.9691 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.51426429 | None | None | I |
| G/F | 0.9919 | likely_pathogenic | 0.9828 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/H | 0.9934 | likely_pathogenic | 0.9758 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/I | 0.9917 | likely_pathogenic | 0.98 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/K | 0.9935 | likely_pathogenic | 0.98 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/L | 0.9898 | likely_pathogenic | 0.9736 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/M | 0.9941 | likely_pathogenic | 0.9827 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/N | 0.9749 | likely_pathogenic | 0.9281 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9958 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Q | 0.9886 | likely_pathogenic | 0.9624 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/R | 0.9854 | likely_pathogenic | 0.953 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.514517779 | None | None | I |
| G/S | 0.8885 | likely_pathogenic | 0.7048 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/T | 0.9781 | likely_pathogenic | 0.9414 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/V | 0.9873 | likely_pathogenic | 0.9687 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.556006208 | None | None | I |
| G/W | 0.9919 | likely_pathogenic | 0.9796 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.556513187 | None | None | I |
| G/Y | 0.9914 | likely_pathogenic | 0.9761 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.776 | 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.