Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9548 | 28867;28868;28869 | chr2:178709677;178709676;178709675 | chr2:179574404;179574403;179574402 |
| N2AB | 9231 | 27916;27917;27918 | chr2:178709677;178709676;178709675 | chr2:179574404;179574403;179574402 |
| N2A | 8304 | 25135;25136;25137 | chr2:178709677;178709676;178709675 | chr2:179574404;179574403;179574402 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/K | rs752064053  |
-0.57 | 0.07 | None | 0.483 | 0.074 | 0.144782658237 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| T/K | rs752064053 |
-0.57 | 0.07 | None | 0.483 | 0.074 | 0.144782658237 | gnomAD-4.0.0 | 1.29993E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09495E-06 | 1.15934E-04 | 0 |
| T/M | rs752064053 |
0.001 | 0.537 | None | 0.534 | 0.088 | 0.351180957027 | gnomAD-2.1.1 | 2.85E-05 | None | None | None | None | N | None | 1.65317E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.56E-05 | 1.40135E-04 |
| T/M | rs752064053 |
0.001 | 0.537 | None | 0.534 | 0.088 | 0.351180957027 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/M | rs752064053 |
0.001 | 0.537 | None | 0.534 | 0.088 | 0.351180957027 | gnomAD-4.0.0 | 9.29502E-06 | None | None | None | None | N | None | 1.20138E-04 | 1.66689E-05 | None | 0 | 0 | None | 0 | 0 | 1.69516E-06 | 2.19578E-05 | 1.60097E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0688 | likely_benign | 0.0662 | benign | -1.115 | Destabilizing | None | N | 0.113 | neutral | None | None | None | None | N |
| T/C | 0.3347 | likely_benign | 0.3198 | benign | -0.831 | Destabilizing | 0.356 | N | 0.517 | neutral | None | None | None | None | N |
| T/D | 0.3265 | likely_benign | 0.3154 | benign | -0.899 | Destabilizing | 0.038 | N | 0.514 | neutral | None | None | None | None | N |
| T/E | 0.2969 | likely_benign | 0.3038 | benign | -0.789 | Destabilizing | 0.038 | N | 0.483 | neutral | None | None | None | None | N |
| T/F | 0.1701 | likely_benign | 0.1575 | benign | -0.814 | Destabilizing | 0.072 | N | 0.599 | neutral | None | None | None | None | N |
| T/G | 0.2368 | likely_benign | 0.2324 | benign | -1.471 | Destabilizing | 0.016 | N | 0.467 | neutral | None | None | None | None | N |
| T/H | 0.2036 | likely_benign | 0.1928 | benign | -1.617 | Destabilizing | 0.356 | N | 0.579 | neutral | None | None | None | None | N |
| T/I | 0.0949 | likely_benign | 0.0937 | benign | -0.215 | Destabilizing | None | N | 0.174 | neutral | None | None | None | None | N |
| T/K | 0.2399 | likely_benign | 0.227 | benign | -0.771 | Destabilizing | 0.07 | N | 0.483 | neutral | None | None | None | None | N |
| T/L | 0.0795 | likely_benign | 0.0772 | benign | -0.215 | Destabilizing | None | N | 0.172 | neutral | None | None | None | None | N |
| T/M | 0.0799 | likely_benign | 0.0792 | benign | -0.118 | Destabilizing | 0.537 | D | 0.534 | neutral | None | None | None | None | N |
| T/N | 0.0949 | likely_benign | 0.0925 | benign | -1.044 | Destabilizing | 0.038 | N | 0.373 | neutral | None | None | None | None | N |
| T/P | 0.5973 | likely_pathogenic | 0.5988 | pathogenic | -0.483 | Destabilizing | 0.055 | N | 0.553 | neutral | None | None | None | None | N |
| T/Q | 0.2207 | likely_benign | 0.2218 | benign | -1.041 | Destabilizing | 0.214 | N | 0.559 | neutral | None | None | None | None | N |
| T/R | 0.1978 | likely_benign | 0.1829 | benign | -0.743 | Destabilizing | 0.13 | N | 0.553 | neutral | None | None | None | None | N |
| T/S | 0.089 | likely_benign | 0.0864 | benign | -1.336 | Destabilizing | None | N | 0.145 | neutral | None | None | None | None | N |
| T/V | 0.0894 | likely_benign | 0.0863 | benign | -0.483 | Destabilizing | None | N | 0.113 | neutral | None | None | None | None | N |
| T/W | 0.555 | ambiguous | 0.5361 | ambiguous | -0.803 | Destabilizing | 0.864 | D | 0.579 | neutral | None | None | None | None | N |
| T/Y | 0.2169 | likely_benign | 0.2082 | benign | -0.526 | Destabilizing | 0.356 | N | 0.607 | 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.