Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7832 | 23719;23720;23721 | chr2:178720148;178720147;178720146 | chr2:179584875;179584874;179584873 |
| N2AB | 7515 | 22768;22769;22770 | chr2:178720148;178720147;178720146 | chr2:179584875;179584874;179584873 |
| N2A | 6588 | 19987;19988;19989 | chr2:178720148;178720147;178720146 | chr2:179584875;179584874;179584873 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs2154300472  |
None | 0.006 | N | 0.268 | 0.087 | 0.211220785272 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| R/G | rs2154300472 |
None | 0.006 | N | 0.268 | 0.087 | 0.211220785272 | gnomAD-4.0.0 | 6.56409E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.7259E-04 |
| R/I | rs1300244680 |
0.238 | 0.065 | N | 0.419 | 0.086 | 0.247872288689 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/I | rs1300244680 |
0.238 | 0.065 | N | 0.419 | 0.086 | 0.247872288689 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/I | rs1300244680 |
0.238 | 0.065 | N | 0.419 | 0.086 | 0.247872288689 | gnomAD-4.0.0 | 3.84336E-06 | None | None | None | None | N | None | 0 | 5.08423E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/K | None | None | None | N | 0.191 | 0.08 | 0.0401082797425 | gnomAD-4.0.0 | 1.59144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.203 | likely_benign | 0.2166 | benign | -0.117 | Destabilizing | 0.004 | N | 0.263 | neutral | None | None | None | None | N |
| R/C | 0.3181 | likely_benign | 0.3106 | benign | -0.417 | Destabilizing | 0.788 | D | 0.241 | neutral | None | None | None | None | N |
| R/D | 0.3432 | ambiguous | 0.3435 | ambiguous | -0.444 | Destabilizing | None | N | 0.228 | neutral | None | None | None | None | N |
| R/E | 0.1847 | likely_benign | 0.186 | benign | -0.428 | Destabilizing | None | N | 0.165 | neutral | None | None | None | None | N |
| R/F | 0.485 | ambiguous | 0.5044 | ambiguous | -0.484 | Destabilizing | 0.497 | N | 0.355 | neutral | None | None | None | None | N |
| R/G | 0.1074 | likely_benign | 0.1202 | benign | -0.202 | Destabilizing | 0.006 | N | 0.268 | neutral | N | 0.323864772 | None | None | N |
| R/H | 0.1239 | likely_benign | 0.1275 | benign | -0.661 | Destabilizing | 0.245 | N | 0.314 | neutral | None | None | None | None | N |
| R/I | 0.2493 | likely_benign | 0.2626 | benign | 0.06 | Stabilizing | 0.065 | N | 0.419 | neutral | N | 0.476314387 | None | None | N |
| R/K | 0.061 | likely_benign | 0.0606 | benign | -0.399 | Destabilizing | None | N | 0.191 | neutral | N | 0.322297052 | None | None | N |
| R/L | 0.2138 | likely_benign | 0.2245 | benign | 0.06 | Stabilizing | 0.018 | N | 0.249 | neutral | None | None | None | None | N |
| R/M | 0.1927 | likely_benign | 0.2108 | benign | -0.269 | Destabilizing | 0.497 | N | 0.292 | neutral | None | None | None | None | N |
| R/N | 0.2556 | likely_benign | 0.2741 | benign | -0.318 | Destabilizing | 0.018 | N | 0.267 | neutral | None | None | None | None | N |
| R/P | 0.4251 | ambiguous | 0.3932 | ambiguous | 0.015 | Stabilizing | 0.037 | N | 0.31 | neutral | None | None | None | None | N |
| R/Q | 0.0919 | likely_benign | 0.0936 | benign | -0.331 | Destabilizing | 0.009 | N | 0.268 | neutral | None | None | None | None | N |
| R/S | 0.2188 | likely_benign | 0.2353 | benign | -0.433 | Destabilizing | 0.003 | N | 0.267 | neutral | N | 0.422151828 | None | None | N |
| R/T | 0.1374 | likely_benign | 0.1532 | benign | -0.341 | Destabilizing | 0.014 | N | 0.278 | neutral | N | 0.438102716 | None | None | N |
| R/V | 0.306 | likely_benign | 0.3062 | benign | 0.015 | Stabilizing | 0.018 | N | 0.335 | neutral | None | None | None | None | N |
| R/W | 0.2121 | likely_benign | 0.2368 | benign | -0.713 | Destabilizing | 0.788 | D | 0.243 | neutral | None | None | None | None | N |
| R/Y | 0.3804 | ambiguous | 0.3835 | ambiguous | -0.353 | Destabilizing | 0.085 | N | 0.38 | 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.