Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32310 | 97153;97154;97155 | chr2:178542926;178542925;178542924 | chr2:179407653;179407652;179407651 |
| N2AB | 30669 | 92230;92231;92232 | chr2:178542926;178542925;178542924 | chr2:179407653;179407652;179407651 |
| N2A | 29742 | 89449;89450;89451 | chr2:178542926;178542925;178542924 | chr2:179407653;179407652;179407651 |
| N2B | 23245 | 69958;69959;69960 | chr2:178542926;178542925;178542924 | chr2:179407653;179407652;179407651 |
| Novex-1 | 23370 | 70333;70334;70335 | chr2:178542926;178542925;178542924 | chr2:179407653;179407652;179407651 |
| Novex-2 | 23437 | 70534;70535;70536 | chr2:178542926;178542925;178542924 | chr2:179407653;179407652;179407651 |
| 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 | rs542208825  |
-0.233 | 0.003 | N | 0.128 | 0.116 | 0.101711395817 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.02E-06 | 0 |
| T/A | rs542208825 |
-0.233 | 0.003 | N | 0.128 | 0.116 | 0.101711395817 | gnomAD-4.0.0 | 6.88136E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04336E-07 | 0 | 0 |
| T/P | rs542208825 |
-0.243 | 0.523 | N | 0.384 | 0.188 | 0.265010934533 | gnomAD-2.1.1 | 2.89E-05 | None | None | None | None | N | None | 0 | 8.62E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.96E-05 | 0 |
| T/P | rs542208825 |
-0.243 | 0.523 | N | 0.384 | 0.188 | 0.265010934533 | gnomAD-3.1.2 | 1.64292E-04 | None | None | None | None | N | None | 0 | 1.57191E-03 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| T/P | rs542208825 |
-0.243 | 0.523 | N | 0.384 | 0.188 | 0.265010934533 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/P | rs542208825 |
-0.243 | 0.523 | N | 0.384 | 0.188 | 0.265010934533 | gnomAD-4.0.0 | 4.5469E-05 | None | None | None | None | N | None | 0 | 5.71371E-04 | None | 0 | 0 | None | 0 | 0 | 2.55581E-05 | 0 | 1.44848E-04 |
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 | 0.0589 | likely_benign | 0.0615 | benign | -0.199 | Destabilizing | 0.003 | N | 0.128 | neutral | N | 0.364376614 | None | None | N |
| T/C | 0.2971 | likely_benign | 0.2797 | benign | -0.207 | Destabilizing | 0.94 | D | 0.316 | neutral | None | None | None | None | N |
| T/D | 0.2116 | likely_benign | 0.21 | benign | 0.114 | Stabilizing | 0.418 | N | 0.332 | neutral | None | None | None | None | N |
| T/E | 0.2062 | likely_benign | 0.2081 | benign | 0.036 | Stabilizing | 0.418 | N | 0.333 | neutral | None | None | None | None | N |
| T/F | 0.204 | likely_benign | 0.1827 | benign | -0.741 | Destabilizing | 0.94 | D | 0.402 | neutral | None | None | None | None | N |
| T/G | 0.0937 | likely_benign | 0.0929 | benign | -0.311 | Destabilizing | None | N | 0.169 | neutral | None | None | None | None | N |
| T/H | 0.1595 | likely_benign | 0.1584 | benign | -0.523 | Destabilizing | 0.94 | D | 0.355 | neutral | None | None | None | None | N |
| T/I | 0.1453 | likely_benign | 0.1434 | benign | -0.023 | Destabilizing | 0.523 | D | 0.371 | neutral | N | 0.446128419 | None | None | N |
| T/K | 0.1458 | likely_benign | 0.1482 | benign | -0.292 | Destabilizing | 0.351 | N | 0.331 | neutral | N | 0.396526318 | None | None | N |
| T/L | 0.0822 | likely_benign | 0.0768 | benign | -0.023 | Destabilizing | 0.228 | N | 0.343 | neutral | None | None | None | None | N |
| T/M | 0.0946 | likely_benign | 0.0923 | benign | -0.01 | Destabilizing | 0.94 | D | 0.321 | neutral | None | None | None | None | N |
| T/N | 0.0837 | likely_benign | 0.0847 | benign | -0.049 | Destabilizing | 0.418 | N | 0.199 | neutral | None | None | None | None | N |
| T/P | 0.0875 | likely_benign | 0.083 | benign | -0.054 | Destabilizing | 0.523 | D | 0.384 | neutral | N | 0.427542658 | None | None | N |
| T/Q | 0.1488 | likely_benign | 0.1552 | benign | -0.253 | Destabilizing | 0.836 | D | 0.405 | neutral | None | None | None | None | N |
| T/R | 0.1341 | likely_benign | 0.13 | benign | -0.002 | Destabilizing | 0.523 | D | 0.371 | neutral | N | 0.408090106 | None | None | N |
| T/S | 0.0737 | likely_benign | 0.0747 | benign | -0.225 | Destabilizing | 0.003 | N | 0.113 | neutral | N | 0.381922225 | None | None | N |
| T/V | 0.1111 | likely_benign | 0.1078 | benign | -0.054 | Destabilizing | 0.228 | N | 0.216 | neutral | None | None | None | None | N |
| T/W | 0.4332 | ambiguous | 0.4155 | ambiguous | -0.809 | Destabilizing | 0.983 | D | 0.353 | neutral | None | None | None | None | N |
| T/Y | 0.1943 | likely_benign | 0.1903 | benign | -0.5 | Destabilizing | 0.94 | D | 0.374 | 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.