Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4616 | 14071;14072;14073 | chr2:178739387;178739386;178739385 | chr2:179604114;179604113;179604112 |
| N2AB | 4299 | 13120;13121;13122 | chr2:178739387;178739386;178739385 | chr2:179604114;179604113;179604112 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4253 | 12982;12983;12984 | chr2:178739387;178739386;178739385 | chr2:179604114;179604113;179604112 |
| Novex-1 | 4378 | 13357;13358;13359 | chr2:178739387;178739386;178739385 | chr2:179604114;179604113;179604112 |
| Novex-2 | 4445 | 13558;13559;13560 | chr2:178739387;178739386;178739385 | chr2:179604114;179604113;179604112 |
| 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/I | rs1008595479  |
None | None | N | 0.082 | 0.118 | None | gnomAD-4.0.0 | 1.59114E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1008595479 |
-0.117 | 0.002 | N | 0.14 | 0.112 | 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 |
| V/L | rs1008595479 |
-0.117 | 0.002 | N | 0.14 | 0.112 | None | gnomAD-4.0.0 | 1.59114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85801E-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 | 0.106 | likely_benign | 0.1312 | benign | -0.42 | Destabilizing | 0.005 | N | 0.139 | neutral | N | 0.496774334 | None | None | N |
| V/C | 0.4803 | ambiguous | 0.5916 | pathogenic | -0.687 | Destabilizing | 0.356 | N | 0.305 | neutral | None | None | None | None | N |
| V/D | 0.1506 | likely_benign | 0.1952 | benign | -0.076 | Destabilizing | 0.055 | N | 0.375 | neutral | N | 0.511169099 | None | None | N |
| V/E | 0.1339 | likely_benign | 0.1725 | benign | -0.188 | Destabilizing | 0.072 | N | 0.283 | neutral | None | None | None | None | N |
| V/F | 0.0904 | likely_benign | 0.1045 | benign | -0.628 | Destabilizing | 0.171 | N | 0.369 | neutral | N | 0.515041149 | None | None | N |
| V/G | 0.1422 | likely_benign | 0.1805 | benign | -0.545 | Destabilizing | 0.012 | N | 0.267 | neutral | N | 0.516008522 | None | None | N |
| V/H | 0.269 | likely_benign | 0.3741 | ambiguous | -0.116 | Destabilizing | 0.628 | D | 0.285 | neutral | None | None | None | None | N |
| V/I | 0.0605 | likely_benign | 0.0648 | benign | -0.246 | Destabilizing | None | N | 0.082 | neutral | N | 0.43879056 | None | None | N |
| V/K | 0.1508 | likely_benign | 0.2133 | benign | -0.371 | Destabilizing | 0.001 | N | 0.19 | neutral | None | None | None | None | N |
| V/L | 0.1057 | likely_benign | 0.131 | benign | -0.246 | Destabilizing | 0.002 | N | 0.14 | neutral | N | 0.501353426 | None | None | N |
| V/M | 0.0898 | likely_benign | 0.0996 | benign | -0.326 | Destabilizing | 0.214 | N | 0.28 | neutral | None | None | None | None | N |
| V/N | 0.1092 | likely_benign | 0.1536 | benign | -0.167 | Destabilizing | 0.072 | N | 0.374 | neutral | None | None | None | None | N |
| V/P | 0.3424 | ambiguous | 0.4897 | ambiguous | -0.27 | Destabilizing | 0.136 | N | 0.365 | neutral | None | None | None | None | N |
| V/Q | 0.1666 | likely_benign | 0.2226 | benign | -0.39 | Destabilizing | 0.214 | N | 0.377 | neutral | None | None | None | None | N |
| V/R | 0.1328 | likely_benign | 0.1795 | benign | 0.106 | Stabilizing | 0.038 | N | 0.407 | neutral | None | None | None | None | N |
| V/S | 0.0988 | likely_benign | 0.1289 | benign | -0.557 | Destabilizing | None | N | 0.119 | neutral | None | None | None | None | N |
| V/T | 0.0801 | likely_benign | 0.0917 | benign | -0.566 | Destabilizing | None | N | 0.107 | neutral | None | None | None | None | N |
| V/W | 0.5324 | ambiguous | 0.6122 | pathogenic | -0.703 | Destabilizing | 0.864 | D | 0.305 | neutral | None | None | None | None | N |
| V/Y | 0.2689 | likely_benign | 0.3364 | benign | -0.4 | Destabilizing | 0.356 | N | 0.349 | 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.