Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8398 | 25417;25418;25419 | chr2:178717682;178717681;178717680 | chr2:179582409;179582408;179582407 |
| N2AB | 8081 | 24466;24467;24468 | chr2:178717682;178717681;178717680 | chr2:179582409;179582408;179582407 |
| N2A | 7154 | 21685;21686;21687 | chr2:178717682;178717681;178717680 | chr2:179582409;179582408;179582407 |
| 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 | None | None | None | N | 0.13 | 0.046 | 0.246215685461 | gnomAD-4.0.0 | 1.59207E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85951E-06 | 0 | 0 |
| V/I | None | 0.04 | 0.055 | N | 0.252 | 0.127 | 0.269111216191 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63763E-04 | None | 0 | 0 | 1.41163E-04 |
| V/I | None | 0.04 | 0.055 | N | 0.252 | 0.127 | 0.269111216191 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | None | 0.04 | 0.055 | N | 0.252 | 0.127 | 0.269111216191 | gnomAD-4.0.0 | 4.9587E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47732E-07 | 5.49221E-05 | 3.20338E-05 |
| V/L | rs535933745  |
0.009 | 0.012 | N | 0.255 | 0.096 | 0.238705975628 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.54258E-04 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs535933745 |
0.009 | 0.012 | N | 0.255 | 0.096 | 0.238705975628 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85356E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs535933745 |
0.009 | 0.012 | N | 0.255 | 0.096 | 0.238705975628 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/L | rs535933745 |
0.009 | 0.012 | N | 0.255 | 0.096 | 0.238705975628 | gnomAD-4.0.0 | 1.31378E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.8625E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1369 | likely_benign | 0.1459 | benign | -0.773 | Destabilizing | None | N | 0.13 | neutral | N | 0.499848261 | None | None | N |
| V/C | 0.6843 | likely_pathogenic | 0.6933 | pathogenic | -0.754 | Destabilizing | 0.676 | D | 0.351 | neutral | None | None | None | None | N |
| V/D | 0.2098 | likely_benign | 0.2393 | benign | -0.155 | Destabilizing | 0.012 | N | 0.383 | neutral | N | 0.510950689 | None | None | N |
| V/E | 0.1378 | likely_benign | 0.159 | benign | -0.179 | Destabilizing | None | N | 0.169 | neutral | None | None | None | None | N |
| V/F | 0.1112 | likely_benign | 0.1239 | benign | -0.588 | Destabilizing | 0.295 | N | 0.348 | neutral | N | 0.493201201 | None | None | N |
| V/G | 0.1802 | likely_benign | 0.2081 | benign | -1.002 | Destabilizing | 0.012 | N | 0.379 | neutral | N | 0.504198075 | None | None | N |
| V/H | 0.3296 | likely_benign | 0.3724 | ambiguous | -0.311 | Destabilizing | 0.356 | N | 0.364 | neutral | None | None | None | None | N |
| V/I | 0.0696 | likely_benign | 0.0679 | benign | -0.275 | Destabilizing | 0.055 | N | 0.252 | neutral | N | 0.483284085 | None | None | N |
| V/K | 0.1751 | likely_benign | 0.1999 | benign | -0.588 | Destabilizing | 0.001 | N | 0.231 | neutral | None | None | None | None | N |
| V/L | 0.132 | likely_benign | 0.1389 | benign | -0.275 | Destabilizing | 0.012 | N | 0.255 | neutral | N | 0.521533042 | None | None | N |
| V/M | 0.1004 | likely_benign | 0.1022 | benign | -0.456 | Destabilizing | 0.356 | N | 0.304 | neutral | None | None | None | None | N |
| V/N | 0.1544 | likely_benign | 0.1498 | benign | -0.538 | Destabilizing | 0.001 | N | 0.279 | neutral | None | None | None | None | N |
| V/P | 0.8199 | likely_pathogenic | 0.8858 | pathogenic | -0.406 | Destabilizing | 0.136 | N | 0.38 | neutral | None | None | None | None | N |
| V/Q | 0.15 | likely_benign | 0.1711 | benign | -0.64 | Destabilizing | None | N | 0.197 | neutral | None | None | None | None | N |
| V/R | 0.1696 | likely_benign | 0.2008 | benign | -0.138 | Destabilizing | 0.038 | N | 0.408 | neutral | None | None | None | None | N |
| V/S | 0.1476 | likely_benign | 0.1561 | benign | -1.03 | Destabilizing | 0.016 | N | 0.349 | neutral | None | None | None | None | N |
| V/T | 0.1498 | likely_benign | 0.1552 | benign | -0.935 | Destabilizing | 0.031 | N | 0.207 | neutral | None | None | None | None | N |
| V/W | 0.6748 | likely_pathogenic | 0.7532 | pathogenic | -0.718 | Destabilizing | 0.864 | D | 0.382 | neutral | None | None | None | None | N |
| V/Y | 0.3638 | ambiguous | 0.4067 | ambiguous | -0.417 | Destabilizing | 0.628 | D | 0.375 | 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.