Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19922 | 59989;59990;59991 | chr2:178592140;178592139;178592138 | chr2:179456867;179456866;179456865 |
| N2AB | 18281 | 55066;55067;55068 | chr2:178592140;178592139;178592138 | chr2:179456867;179456866;179456865 |
| N2A | 17354 | 52285;52286;52287 | chr2:178592140;178592139;178592138 | chr2:179456867;179456866;179456865 |
| N2B | 10857 | 32794;32795;32796 | chr2:178592140;178592139;178592138 | chr2:179456867;179456866;179456865 |
| Novex-1 | 10982 | 33169;33170;33171 | chr2:178592140;178592139;178592138 | chr2:179456867;179456866;179456865 |
| Novex-2 | 11049 | 33370;33371;33372 | chr2:178592140;178592139;178592138 | chr2:179456867;179456866;179456865 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs1054816991  |
-0.249 | 0.002 | N | 0.147 | 0.061 | 0.124217242631 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs1054816991 |
-0.249 | 0.002 | N | 0.147 | 0.061 | 0.124217242631 | gnomAD-4.0.0 | 1.36911E-06 | None | None | None | None | N | None | 0 | 2.24014E-05 | None | 0 | 0 | None | 0 | 0 | 8.99667E-07 | 0 | 0 |
| A/T | rs1054816991 |
-0.293 | None | N | 0.107 | 0.08 | 0.139678290688 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.47E-05 | 0 |
| A/T | rs1054816991 |
-0.293 | None | N | 0.107 | 0.08 | 0.139678290688 | gnomAD-4.0.0 | 1.09529E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.06842E-05 | None | 0 | 1.73671E-04 | 8.09701E-06 | 0 | 6.63152E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3189 | likely_benign | 0.2755 | benign | -0.779 | Destabilizing | 0.356 | N | 0.293 | neutral | None | None | None | None | N |
| A/D | 0.1624 | likely_benign | 0.1452 | benign | -0.325 | Destabilizing | 0.055 | N | 0.313 | neutral | N | 0.43753786 | None | None | N |
| A/E | 0.1505 | likely_benign | 0.1422 | benign | -0.476 | Destabilizing | 0.072 | N | 0.325 | neutral | None | None | None | None | N |
| A/F | 0.2448 | likely_benign | 0.2082 | benign | -0.896 | Destabilizing | None | N | 0.346 | neutral | None | None | None | None | N |
| A/G | 0.0991 | likely_benign | 0.0926 | benign | -0.317 | Destabilizing | None | N | 0.115 | neutral | N | 0.3855861 | None | None | N |
| A/H | 0.2596 | likely_benign | 0.2404 | benign | -0.309 | Destabilizing | 0.628 | D | 0.345 | neutral | None | None | None | None | N |
| A/I | 0.1458 | likely_benign | 0.1299 | benign | -0.362 | Destabilizing | 0.013 | N | 0.325 | neutral | None | None | None | None | N |
| A/K | 0.2312 | likely_benign | 0.2107 | benign | -0.532 | Destabilizing | 0.072 | N | 0.338 | neutral | None | None | None | None | N |
| A/L | 0.1082 | likely_benign | 0.0962 | benign | -0.362 | Destabilizing | 0.016 | N | 0.387 | neutral | None | None | None | None | N |
| A/M | 0.1554 | likely_benign | 0.1382 | benign | -0.468 | Destabilizing | 0.214 | N | 0.325 | neutral | None | None | None | None | N |
| A/N | 0.1312 | likely_benign | 0.1147 | benign | -0.213 | Destabilizing | 0.072 | N | 0.35 | neutral | None | None | None | None | N |
| A/P | 0.0819 | likely_benign | 0.0767 | benign | -0.302 | Destabilizing | None | N | 0.141 | neutral | N | 0.43846058 | None | None | N |
| A/Q | 0.1774 | likely_benign | 0.1659 | benign | -0.481 | Destabilizing | 0.214 | N | 0.373 | neutral | None | None | None | None | N |
| A/R | 0.2334 | likely_benign | 0.2186 | benign | -0.089 | Destabilizing | 0.072 | N | 0.379 | neutral | None | None | None | None | N |
| A/S | 0.0741 | likely_benign | 0.0702 | benign | -0.435 | Destabilizing | 0.002 | N | 0.147 | neutral | N | 0.430302457 | None | None | N |
| A/T | 0.0693 | likely_benign | 0.0657 | benign | -0.503 | Destabilizing | None | N | 0.107 | neutral | N | 0.427070151 | None | None | N |
| A/V | 0.0878 | likely_benign | 0.0839 | benign | -0.302 | Destabilizing | None | N | 0.159 | neutral | N | 0.457393058 | None | None | N |
| A/W | 0.5152 | ambiguous | 0.4671 | ambiguous | -1.014 | Destabilizing | 0.864 | D | 0.347 | neutral | None | None | None | None | N |
| A/Y | 0.3111 | likely_benign | 0.2765 | benign | -0.671 | Destabilizing | 0.12 | N | 0.385 | 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.