Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5655 | 17188;17189;17190 | chr2:178731912;178731911;178731910 | chr2:179596639;179596638;179596637 |
| N2AB | 5338 | 16237;16238;16239 | chr2:178731912;178731911;178731910 | chr2:179596639;179596638;179596637 |
| N2A | 4411 | 13456;13457;13458 | chr2:178731912;178731911;178731910 | chr2:179596639;179596638;179596637 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs750859083  |
0.02 | None | N | 0.238 | 0.191 | 0.178374595973 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/I | rs750859083 |
0.02 | None | N | 0.238 | 0.191 | 0.178374595973 | gnomAD-4.0.0 | 1.5916E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/R | None | None | 0.014 | N | 0.474 | 0.215 | 0.290590437066 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02462E-05 |
| M/V | rs2080601989 |
None | None | N | 0.221 | 0.128 | 0.170165803431 | 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 |
| M/V | rs2080601989 |
None | None | N | 0.221 | 0.128 | 0.170165803431 | gnomAD-4.0.0 | 2.56251E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78675E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.2449 | likely_benign | 0.2521 | benign | -0.847 | Destabilizing | None | N | 0.264 | neutral | None | None | None | None | N |
| M/C | 0.6191 | likely_pathogenic | 0.624 | pathogenic | -0.819 | Destabilizing | 0.245 | N | 0.459 | neutral | None | None | None | None | N |
| M/D | 0.5876 | likely_pathogenic | 0.6273 | pathogenic | 0.19 | Stabilizing | 0.018 | N | 0.487 | neutral | None | None | None | None | N |
| M/E | 0.3395 | likely_benign | 0.3573 | ambiguous | 0.187 | Stabilizing | 0.018 | N | 0.433 | neutral | None | None | None | None | N |
| M/F | 0.2591 | likely_benign | 0.2928 | benign | -0.113 | Destabilizing | 0.018 | N | 0.431 | neutral | None | None | None | None | N |
| M/G | 0.4522 | ambiguous | 0.4953 | ambiguous | -1.101 | Destabilizing | 0.004 | N | 0.457 | neutral | None | None | None | None | N |
| M/H | 0.327 | likely_benign | 0.3568 | ambiguous | -0.173 | Destabilizing | 0.497 | N | 0.5 | neutral | None | None | None | None | N |
| M/I | 0.1882 | likely_benign | 0.2292 | benign | -0.239 | Destabilizing | None | N | 0.238 | neutral | N | 0.387865896 | None | None | N |
| M/K | 0.1708 | likely_benign | 0.2018 | benign | 0.051 | Stabilizing | 0.014 | N | 0.407 | neutral | N | 0.397293456 | None | None | N |
| M/L | 0.0978 | likely_benign | 0.1107 | benign | -0.239 | Destabilizing | None | N | 0.223 | neutral | N | 0.395138585 | None | None | N |
| M/N | 0.2661 | likely_benign | 0.3036 | benign | 0.137 | Stabilizing | 0.018 | N | 0.489 | neutral | None | None | None | None | N |
| M/P | 0.7909 | likely_pathogenic | 0.8595 | pathogenic | -0.412 | Destabilizing | 0.018 | N | 0.494 | neutral | None | None | None | None | N |
| M/Q | 0.2031 | likely_benign | 0.2105 | benign | 0.053 | Stabilizing | 0.085 | N | 0.436 | neutral | None | None | None | None | N |
| M/R | 0.1852 | likely_benign | 0.2211 | benign | 0.515 | Stabilizing | 0.014 | N | 0.474 | neutral | N | 0.402507275 | None | None | N |
| M/S | 0.2242 | likely_benign | 0.2417 | benign | -0.411 | Destabilizing | None | N | 0.269 | neutral | None | None | None | None | N |
| M/T | 0.1045 | likely_benign | 0.1148 | benign | -0.299 | Destabilizing | None | N | 0.245 | neutral | N | 0.374221809 | None | None | N |
| M/V | 0.0799 | likely_benign | 0.0869 | benign | -0.412 | Destabilizing | None | N | 0.221 | neutral | N | 0.37201101 | None | None | N |
| M/W | 0.5548 | ambiguous | 0.6309 | pathogenic | -0.088 | Destabilizing | 0.497 | N | 0.451 | neutral | None | None | None | None | N |
| M/Y | 0.4325 | ambiguous | 0.4662 | ambiguous | -0.011 | Destabilizing | 0.085 | N | 0.504 | 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.