Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9208 | 27847;27848;27849 | chr2:178712208;178712207;178712206 | chr2:179576935;179576934;179576933 |
| N2AB | 8891 | 26896;26897;26898 | chr2:178712208;178712207;178712206 | chr2:179576935;179576934;179576933 |
| N2A | 7964 | 24115;24116;24117 | chr2:178712208;178712207;178712206 | chr2:179576935;179576934;179576933 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs753893157  |
-1.189 | 0.051 | N | 0.09 | 0.091 | 0.408036853922 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63945E-04 | None | 0 | 0 | 0 |
| V/A | rs753893157 |
-1.189 | 0.051 | N | 0.09 | 0.091 | 0.408036853922 | gnomAD-4.0.0 | 1.36895E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32072E-04 | 0 |
| V/I | None | None | 0.005 | N | 0.101 | 0.093 | 0.276482976112 | gnomAD-4.0.0 | 6.84525E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99826E-07 | 0 | 0 |
| V/L | rs761956896 |
-0.175 | 0.005 | N | 0.069 | 0.105 | 0.197625483188 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/L | rs761956896 |
-0.175 | 0.005 | N | 0.069 | 0.105 | 0.197625483188 | gnomAD-4.0.0 | 1.36905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79965E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2946 | likely_benign | 0.2811 | benign | -1.136 | Destabilizing | 0.051 | N | 0.09 | neutral | N | 0.513120549 | None | None | N |
| V/C | 0.7912 | likely_pathogenic | 0.8073 | pathogenic | -0.658 | Destabilizing | 0.998 | D | 0.313 | neutral | None | None | None | None | N |
| V/D | 0.4699 | ambiguous | 0.4541 | ambiguous | -0.844 | Destabilizing | 0.876 | D | 0.383 | neutral | N | 0.466011689 | None | None | N |
| V/E | 0.272 | likely_benign | 0.2715 | benign | -0.847 | Destabilizing | 0.067 | N | 0.205 | neutral | None | None | None | None | N |
| V/F | 0.1991 | likely_benign | 0.2077 | benign | -0.822 | Destabilizing | 0.934 | D | 0.379 | neutral | N | 0.472884543 | None | None | N |
| V/G | 0.3386 | likely_benign | 0.3316 | benign | -1.423 | Destabilizing | 0.801 | D | 0.369 | neutral | N | 0.48089994 | None | None | N |
| V/H | 0.5939 | likely_pathogenic | 0.5971 | pathogenic | -0.799 | Destabilizing | 0.998 | D | 0.331 | neutral | None | None | None | None | N |
| V/I | 0.0705 | likely_benign | 0.0702 | benign | -0.461 | Destabilizing | 0.005 | N | 0.101 | neutral | N | 0.424173413 | None | None | N |
| V/K | 0.3658 | ambiguous | 0.3682 | ambiguous | -0.932 | Destabilizing | 0.842 | D | 0.331 | neutral | None | None | None | None | N |
| V/L | 0.1514 | likely_benign | 0.1521 | benign | -0.461 | Destabilizing | 0.005 | N | 0.069 | neutral | N | 0.437910715 | None | None | N |
| V/M | 0.1645 | likely_benign | 0.1663 | benign | -0.388 | Destabilizing | 0.949 | D | 0.345 | neutral | None | None | None | None | N |
| V/N | 0.3874 | ambiguous | 0.3663 | ambiguous | -0.758 | Destabilizing | 0.974 | D | 0.373 | neutral | None | None | None | None | N |
| V/P | 0.7882 | likely_pathogenic | 0.7751 | pathogenic | -0.651 | Destabilizing | 0.991 | D | 0.373 | neutral | None | None | None | None | N |
| V/Q | 0.3081 | likely_benign | 0.3121 | benign | -0.912 | Destabilizing | 0.949 | D | 0.356 | neutral | None | None | None | None | N |
| V/R | 0.3161 | likely_benign | 0.3332 | benign | -0.387 | Destabilizing | 0.949 | D | 0.385 | neutral | None | None | None | None | N |
| V/S | 0.3196 | likely_benign | 0.2978 | benign | -1.248 | Destabilizing | 0.728 | D | 0.302 | neutral | None | None | None | None | N |
| V/T | 0.2556 | likely_benign | 0.2193 | benign | -1.144 | Destabilizing | 0.842 | D | 0.19 | neutral | None | None | None | None | N |
| V/W | 0.8079 | likely_pathogenic | 0.8188 | pathogenic | -1.004 | Destabilizing | 0.998 | D | 0.389 | neutral | None | None | None | None | N |
| V/Y | 0.5887 | likely_pathogenic | 0.6038 | pathogenic | -0.702 | Destabilizing | 0.974 | D | 0.347 | neutral | 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.