Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27965 | 84118;84119;84120 | chr2:178562239;178562238;178562237 | chr2:179426966;179426965;179426964 |
| N2AB | 26324 | 79195;79196;79197 | chr2:178562239;178562238;178562237 | chr2:179426966;179426965;179426964 |
| N2A | 25397 | 76414;76415;76416 | chr2:178562239;178562238;178562237 | chr2:179426966;179426965;179426964 |
| N2B | 18900 | 56923;56924;56925 | chr2:178562239;178562238;178562237 | chr2:179426966;179426965;179426964 |
| Novex-1 | 19025 | 57298;57299;57300 | chr2:178562239;178562238;178562237 | chr2:179426966;179426965;179426964 |
| Novex-2 | 19092 | 57499;57500;57501 | chr2:178562239;178562238;178562237 | chr2:179426966;179426965;179426964 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1284864788  |
-1.823 | 0.004 | D | 0.302 | 0.25 | 0.357519025918 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1284864788 |
-1.823 | 0.004 | D | 0.302 | 0.25 | 0.357519025918 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1284864788 |
-1.823 | 0.004 | D | 0.302 | 0.25 | 0.357519025918 | gnomAD-4.0.0 | 2.56472E-06 | None | None | None | None | I | None | 3.38558E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1321140287 |
-0.319 | 0.002 | N | 0.244 | 0.076 | 0.332902724076 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/I | rs1321140287 |
-0.319 | 0.002 | N | 0.244 | 0.076 | 0.332902724076 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs1321140287 |
-0.319 | 0.002 | N | 0.244 | 0.076 | 0.332902724076 | gnomAD-4.0.0 | 3.10005E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23903E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2139 | likely_benign | 0.2278 | benign | -1.693 | Destabilizing | 0.004 | N | 0.302 | neutral | D | 0.530443313 | None | None | I |
| V/C | 0.7974 | likely_pathogenic | 0.7845 | pathogenic | -1.248 | Destabilizing | 0.992 | D | 0.687 | prob.neutral | None | None | None | None | I |
| V/D | 0.9509 | likely_pathogenic | 0.9553 | pathogenic | -1.864 | Destabilizing | 0.896 | D | 0.773 | deleterious | N | 0.493218109 | None | None | I |
| V/E | 0.9029 | likely_pathogenic | 0.9092 | pathogenic | -1.708 | Destabilizing | 0.85 | D | 0.739 | prob.delet. | None | None | None | None | I |
| V/F | 0.3045 | likely_benign | 0.2896 | benign | -0.942 | Destabilizing | 0.81 | D | 0.677 | prob.neutral | N | 0.399353192 | None | None | I |
| V/G | 0.5683 | likely_pathogenic | 0.5967 | pathogenic | -2.158 | Highly Destabilizing | 0.379 | N | 0.741 | deleterious | N | 0.492964619 | None | None | I |
| V/H | 0.9484 | likely_pathogenic | 0.953 | pathogenic | -1.678 | Destabilizing | 0.992 | D | 0.795 | deleterious | None | None | None | None | I |
| V/I | 0.0814 | likely_benign | 0.0805 | benign | -0.442 | Destabilizing | 0.002 | N | 0.244 | neutral | N | 0.41748038 | None | None | I |
| V/K | 0.9107 | likely_pathogenic | 0.9177 | pathogenic | -1.579 | Destabilizing | 0.85 | D | 0.739 | prob.delet. | None | None | None | None | I |
| V/L | 0.2683 | likely_benign | 0.2642 | benign | -0.442 | Destabilizing | 0.002 | N | 0.297 | neutral | N | 0.433434054 | None | None | I |
| V/M | 0.2103 | likely_benign | 0.228 | benign | -0.459 | Destabilizing | 0.85 | D | 0.58 | neutral | None | None | None | None | I |
| V/N | 0.8779 | likely_pathogenic | 0.8973 | pathogenic | -1.717 | Destabilizing | 0.92 | D | 0.791 | deleterious | None | None | None | None | I |
| V/P | 0.8286 | likely_pathogenic | 0.8563 | pathogenic | -0.828 | Destabilizing | 0.92 | D | 0.757 | deleterious | None | None | None | None | I |
| V/Q | 0.8828 | likely_pathogenic | 0.889 | pathogenic | -1.651 | Destabilizing | 0.92 | D | 0.775 | deleterious | None | None | None | None | I |
| V/R | 0.872 | likely_pathogenic | 0.8796 | pathogenic | -1.281 | Destabilizing | 0.92 | D | 0.793 | deleterious | None | None | None | None | I |
| V/S | 0.5785 | likely_pathogenic | 0.6155 | pathogenic | -2.316 | Highly Destabilizing | 0.447 | N | 0.685 | prob.neutral | None | None | None | None | I |
| V/T | 0.3263 | likely_benign | 0.3554 | ambiguous | -2.019 | Highly Destabilizing | 0.021 | N | 0.366 | neutral | None | None | None | None | I |
| V/W | 0.9448 | likely_pathogenic | 0.9426 | pathogenic | -1.316 | Destabilizing | 0.992 | D | 0.795 | deleterious | None | None | None | None | I |
| V/Y | 0.8428 | likely_pathogenic | 0.8309 | pathogenic | -0.945 | Destabilizing | 0.92 | D | 0.687 | prob.neutral | None | None | None | None | I |
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.