Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4610 | 14053;14054;14055 | chr2:178739405;178739404;178739403 | chr2:179604132;179604131;179604130 |
| N2AB | 4293 | 13102;13103;13104 | chr2:178739405;178739404;178739403 | chr2:179604132;179604131;179604130 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4247 | 12964;12965;12966 | chr2:178739405;178739404;178739403 | chr2:179604132;179604131;179604130 |
| Novex-1 | 4372 | 13339;13340;13341 | chr2:178739405;178739404;178739403 | chr2:179604132;179604131;179604130 |
| Novex-2 | 4439 | 13540;13541;13542 | chr2:178739405;178739404;178739403 | chr2:179604132;179604131;179604130 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs756313556  |
-0.865 | 0.019 | N | 0.217 | 0.181 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/A | rs756313556 |
-0.865 | 0.019 | N | 0.217 | 0.181 | None | gnomAD-4.0.0 | 1.59113E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85793E-06 | 0 | 0 |
| T/I | None | None | None | N | 0.153 | 0.147 | None | gnomAD-4.0.0 | 1.36838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52029E-05 | None | 0 | 0 | 8.99437E-07 | 0 | 0 |
| T/K | None | None | None | N | 0.111 | 0.11 | None | gnomAD-4.0.0 | 6.84189E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99437E-07 | 0 | 0 |
| T/R | rs748210214 |
-0.396 | None | N | 0.131 | 0.154 | None | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 2.6093E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/R | rs748210214 |
-0.396 | None | N | 0.131 | 0.154 | None | gnomAD-4.0.0 | 6.84189E-06 | None | None | None | None | N | None | 0 | 2.23634E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0866 | likely_benign | 0.0883 | benign | -0.622 | Destabilizing | 0.019 | N | 0.217 | neutral | N | 0.506034408 | None | None | N |
| T/C | 0.2953 | likely_benign | 0.3209 | benign | -0.378 | Destabilizing | 0.958 | D | 0.293 | neutral | None | None | None | None | N |
| T/D | 0.2311 | likely_benign | 0.2588 | benign | 0.1 | Stabilizing | 0.124 | N | 0.345 | neutral | None | None | None | None | N |
| T/E | 0.1618 | likely_benign | 0.1867 | benign | 0.082 | Stabilizing | 0.055 | N | 0.341 | neutral | None | None | None | None | N |
| T/F | 0.1289 | likely_benign | 0.1496 | benign | -0.753 | Destabilizing | 0.497 | N | 0.424 | neutral | None | None | None | None | N |
| T/G | 0.2072 | likely_benign | 0.2468 | benign | -0.856 | Destabilizing | 0.055 | N | 0.309 | neutral | None | None | None | None | N |
| T/H | 0.1209 | likely_benign | 0.1376 | benign | -1.081 | Destabilizing | 0.497 | N | 0.37 | neutral | None | None | None | None | N |
| T/I | 0.093 | likely_benign | 0.0995 | benign | -0.102 | Destabilizing | None | N | 0.153 | neutral | N | 0.506034408 | None | None | N |
| T/K | 0.0834 | likely_benign | 0.0992 | benign | -0.582 | Destabilizing | None | N | 0.111 | neutral | N | 0.431670085 | None | None | N |
| T/L | 0.0693 | likely_benign | 0.076 | benign | -0.102 | Destabilizing | 0.009 | N | 0.303 | neutral | None | None | None | None | N |
| T/M | 0.0816 | likely_benign | 0.0801 | benign | 0.098 | Stabilizing | 0.009 | N | 0.236 | neutral | None | None | None | None | N |
| T/N | 0.0867 | likely_benign | 0.0949 | benign | -0.475 | Destabilizing | None | N | 0.125 | neutral | None | None | None | None | N |
| T/P | 0.1952 | likely_benign | 0.1991 | benign | -0.243 | Destabilizing | 0.301 | N | 0.369 | neutral | D | 0.578892373 | None | None | N |
| T/Q | 0.1199 | likely_benign | 0.1372 | benign | -0.637 | Destabilizing | 0.004 | N | 0.197 | neutral | None | None | None | None | N |
| T/R | 0.0689 | likely_benign | 0.0789 | benign | -0.33 | Destabilizing | None | N | 0.131 | neutral | N | 0.490581739 | None | None | N |
| T/S | 0.0978 | likely_benign | 0.1088 | benign | -0.768 | Destabilizing | 0.003 | N | 0.131 | neutral | N | 0.512280469 | None | None | N |
| T/V | 0.0943 | likely_benign | 0.1046 | benign | -0.243 | Destabilizing | 0.055 | N | 0.251 | neutral | None | None | None | None | N |
| T/W | 0.3714 | ambiguous | 0.4118 | ambiguous | -0.703 | Destabilizing | 0.958 | D | 0.359 | neutral | None | None | None | None | N |
| T/Y | 0.1483 | likely_benign | 0.1651 | benign | -0.463 | Destabilizing | 0.667 | D | 0.413 | 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.