Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27094 | 81505;81506;81507 | chr2:178564852;178564851;178564850 | chr2:179429579;179429578;179429577 |
| N2AB | 25453 | 76582;76583;76584 | chr2:178564852;178564851;178564850 | chr2:179429579;179429578;179429577 |
| N2A | 24526 | 73801;73802;73803 | chr2:178564852;178564851;178564850 | chr2:179429579;179429578;179429577 |
| N2B | 18029 | 54310;54311;54312 | chr2:178564852;178564851;178564850 | chr2:179429579;179429578;179429577 |
| Novex-1 | 18154 | 54685;54686;54687 | chr2:178564852;178564851;178564850 | chr2:179429579;179429578;179429577 |
| Novex-2 | 18221 | 54886;54887;54888 | chr2:178564852;178564851;178564850 | chr2:179429579;179429578;179429577 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Q | rs556790419  |
0.263 | 0.013 | N | 0.19 | 0.079 | 0.0846915920261 | gnomAD-2.1.1 | 1.21311E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.50508E-04 | None | 0 | 0 | 1.67336E-04 |
| H/Q | rs556790419 |
0.263 | 0.013 | N | 0.19 | 0.079 | 0.0846915920261 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.03777E-03 | 0 |
| H/Q | rs556790419 |
0.263 | 0.013 | N | 0.19 | 0.079 | 0.0846915920261 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| H/Q | rs556790419 |
0.263 | 0.013 | N | 0.19 | 0.079 | 0.0846915920261 | gnomAD-4.0.0 | 4.79119E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 8.12329E-05 | 0 |
| H/Y | rs1363036038 |
1.228 | 0.662 | N | 0.435 | 0.141 | 0.287603790349 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 2.29516E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Y | rs1363036038 |
1.228 | 0.662 | N | 0.435 | 0.141 | 0.287603790349 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs1363036038 |
1.228 | 0.662 | N | 0.435 | 0.141 | 0.287603790349 | gnomAD-4.0.0 | 1.97236E-05 | None | None | None | None | N | None | 7.24043E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.437 | ambiguous | 0.3864 | ambiguous | 0.028 | Stabilizing | 0.345 | N | 0.321 | neutral | None | None | None | None | N |
| H/C | 0.2744 | likely_benign | 0.2474 | benign | 0.638 | Stabilizing | 0.991 | D | 0.481 | neutral | None | None | None | None | N |
| H/D | 0.3825 | ambiguous | 0.3021 | benign | -0.076 | Destabilizing | 0.166 | N | 0.425 | neutral | N | 0.413274134 | None | None | N |
| H/E | 0.474 | ambiguous | 0.4037 | ambiguous | -0.009 | Destabilizing | 0.209 | N | 0.272 | neutral | None | None | None | None | N |
| H/F | 0.4434 | ambiguous | 0.3906 | ambiguous | 1.02 | Stabilizing | 0.818 | D | 0.611 | neutral | None | None | None | None | N |
| H/G | 0.4369 | ambiguous | 0.4075 | ambiguous | -0.309 | Destabilizing | 0.209 | N | 0.387 | neutral | None | None | None | None | N |
| H/I | 0.5524 | ambiguous | 0.4851 | ambiguous | 0.923 | Stabilizing | 0.39 | N | 0.563 | neutral | None | None | None | None | N |
| H/K | 0.3637 | ambiguous | 0.3199 | benign | 0.191 | Stabilizing | 0.007 | N | 0.198 | neutral | None | None | None | None | N |
| H/L | 0.1902 | likely_benign | 0.1645 | benign | 0.923 | Stabilizing | 0.001 | N | 0.339 | neutral | N | 0.466396543 | None | None | N |
| H/M | 0.5093 | ambiguous | 0.461 | ambiguous | 0.631 | Stabilizing | 0.818 | D | 0.527 | neutral | None | None | None | None | N |
| H/N | 0.0987 | likely_benign | 0.0833 | benign | 0.093 | Stabilizing | 0.001 | N | 0.166 | neutral | N | 0.398171396 | None | None | N |
| H/P | 0.3407 | ambiguous | 0.3118 | benign | 0.649 | Stabilizing | 0.662 | D | 0.603 | neutral | N | 0.470052924 | None | None | N |
| H/Q | 0.2793 | likely_benign | 0.2386 | benign | 0.265 | Stabilizing | 0.013 | N | 0.19 | neutral | N | 0.436169636 | None | None | N |
| H/R | 0.2066 | likely_benign | 0.1816 | benign | -0.447 | Destabilizing | 0.166 | N | 0.335 | neutral | N | 0.439730017 | None | None | N |
| H/S | 0.3191 | likely_benign | 0.2756 | benign | 0.154 | Stabilizing | 0.209 | N | 0.361 | neutral | None | None | None | None | N |
| H/T | 0.4048 | ambiguous | 0.3479 | ambiguous | 0.333 | Stabilizing | 0.345 | N | 0.451 | neutral | None | None | None | None | N |
| H/V | 0.4572 | ambiguous | 0.4008 | ambiguous | 0.649 | Stabilizing | 0.39 | N | 0.487 | neutral | None | None | None | None | N |
| H/W | 0.573 | likely_pathogenic | 0.5482 | ambiguous | 1.163 | Stabilizing | 0.991 | D | 0.508 | neutral | None | None | None | None | N |
| H/Y | 0.1534 | likely_benign | 0.1372 | benign | 1.334 | Stabilizing | 0.662 | D | 0.435 | neutral | N | 0.467263335 | 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.