Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33436 | 100531;100532;100533 | chr2:178536441;178536440;178536439 | chr2:179401168;179401167;179401166 |
| N2AB | 31795 | 95608;95609;95610 | chr2:178536441;178536440;178536439 | chr2:179401168;179401167;179401166 |
| N2A | 30868 | 92827;92828;92829 | chr2:178536441;178536440;178536439 | chr2:179401168;179401167;179401166 |
| N2B | 24371 | 73336;73337;73338 | chr2:178536441;178536440;178536439 | chr2:179401168;179401167;179401166 |
| Novex-1 | 24496 | 73711;73712;73713 | chr2:178536441;178536440;178536439 | chr2:179401168;179401167;179401166 |
| Novex-2 | 24563 | 73912;73913;73914 | chr2:178536441;178536440;178536439 | chr2:179401168;179401167;179401166 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1403079521  |
-1.073 | 0.998 | N | 0.386 | 0.223 | 0.265929055128 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| Q/H | rs1403079521 |
-1.073 | 0.998 | N | 0.386 | 0.223 | 0.265929055128 | 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 |
| Q/H | rs1403079521 |
-1.073 | 0.998 | N | 0.386 | 0.223 | 0.265929055128 | gnomAD-4.0.0 | 3.72126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08905E-06 | 0 | 0 |
| Q/K | None | None | 0.248 | N | 0.28 | 0.175 | 0.187945064343 | gnomAD-4.0.0 | 6.84918E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16114E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.264 | likely_benign | 0.2471 | benign | -0.287 | Destabilizing | 0.97 | D | 0.387 | neutral | None | None | None | None | N |
| Q/C | 0.8207 | likely_pathogenic | 0.7911 | pathogenic | 0.148 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| Q/D | 0.4453 | ambiguous | 0.4473 | ambiguous | -0.036 | Destabilizing | 0.985 | D | 0.375 | neutral | None | None | None | None | N |
| Q/E | 0.1062 | likely_benign | 0.1094 | benign | -0.041 | Destabilizing | 0.91 | D | 0.385 | neutral | N | 0.374406315 | None | None | N |
| Q/F | 0.815 | likely_pathogenic | 0.7979 | pathogenic | -0.332 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| Q/G | 0.263 | likely_benign | 0.2705 | benign | -0.517 | Destabilizing | 0.985 | D | 0.447 | neutral | None | None | None | None | N |
| Q/H | 0.4386 | ambiguous | 0.4152 | ambiguous | -0.357 | Destabilizing | 0.998 | D | 0.386 | neutral | N | 0.444461046 | None | None | N |
| Q/I | 0.5297 | ambiguous | 0.5211 | ambiguous | 0.243 | Stabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| Q/K | 0.1619 | likely_benign | 0.1714 | benign | -0.08 | Destabilizing | 0.248 | N | 0.28 | neutral | N | 0.400400837 | None | None | N |
| Q/L | 0.2147 | likely_benign | 0.195 | benign | 0.243 | Stabilizing | 0.98 | D | 0.447 | neutral | N | 0.493196355 | None | None | N |
| Q/M | 0.4628 | ambiguous | 0.4109 | ambiguous | 0.478 | Stabilizing | 0.999 | D | 0.389 | neutral | None | None | None | None | N |
| Q/N | 0.2814 | likely_benign | 0.2789 | benign | -0.386 | Destabilizing | 0.985 | D | 0.393 | neutral | None | None | None | None | N |
| Q/P | 0.4738 | ambiguous | 0.5169 | ambiguous | 0.096 | Stabilizing | 0.998 | D | 0.411 | neutral | N | 0.452272452 | None | None | N |
| Q/R | 0.191 | likely_benign | 0.2076 | benign | 0.093 | Stabilizing | 0.925 | D | 0.394 | neutral | N | 0.426606004 | None | None | N |
| Q/S | 0.2722 | likely_benign | 0.2705 | benign | -0.41 | Destabilizing | 0.97 | D | 0.347 | neutral | None | None | None | None | N |
| Q/T | 0.2478 | likely_benign | 0.2502 | benign | -0.254 | Destabilizing | 0.985 | D | 0.39 | neutral | None | None | None | None | N |
| Q/V | 0.3956 | ambiguous | 0.3735 | ambiguous | 0.096 | Stabilizing | 0.996 | D | 0.479 | neutral | None | None | None | None | N |
| Q/W | 0.7779 | likely_pathogenic | 0.7791 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| Q/Y | 0.6565 | likely_pathogenic | 0.6437 | pathogenic | -0.054 | Destabilizing | 0.999 | D | 0.402 | 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.