Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26961 | 81106;81107;81108 | chr2:178565251;178565250;178565249 | chr2:179429978;179429977;179429976 |
| N2AB | 25320 | 76183;76184;76185 | chr2:178565251;178565250;178565249 | chr2:179429978;179429977;179429976 |
| N2A | 24393 | 73402;73403;73404 | chr2:178565251;178565250;178565249 | chr2:179429978;179429977;179429976 |
| N2B | 17896 | 53911;53912;53913 | chr2:178565251;178565250;178565249 | chr2:179429978;179429977;179429976 |
| Novex-1 | 18021 | 54286;54287;54288 | chr2:178565251;178565250;178565249 | chr2:179429978;179429977;179429976 |
| Novex-2 | 18088 | 54487;54488;54489 | chr2:178565251;178565250;178565249 | chr2:179429978;179429977;179429976 |
| 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/E | rs749194310  |
-0.553 | 0.193 | N | 0.665 | 0.181 | 0.365703291355 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 6.47E-05 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/E | rs749194310 |
-0.553 | 0.193 | N | 0.665 | 0.181 | 0.365703291355 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/E | rs749194310 |
-0.553 | 0.193 | N | 0.665 | 0.181 | 0.365703291355 | gnomAD-4.0.0 | 2.47909E-06 | None | None | None | None | N | None | 2.67023E-05 | 1.66778E-05 | None | 0 | 0 | None | 0 | 0 | 8.47679E-07 | 0 | 0 |
| A/T | rs779484612 |
-0.634 | 0.001 | N | 0.218 | 0.116 | 0.209622950755 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 6.46E-05 | 1.45003E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs779484612 |
-0.634 | 0.001 | N | 0.218 | 0.116 | 0.209622950755 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs779484612 |
-0.634 | 0.001 | N | 0.218 | 0.116 | 0.209622950755 | gnomAD-4.0.0 | 6.19765E-06 | None | None | None | None | N | None | 2.67023E-05 | 1.16744E-04 | None | 0 | 0 | None | 0 | 1.64528E-04 | 0 | 0 | 0 |
| A/V | rs749194310 |
-0.171 | 0.003 | N | 0.217 | 0.102 | 0.293147016451 | gnomAD-2.1.1 | 6.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.41161E-04 | 0 |
| A/V | rs749194310 |
-0.171 | 0.003 | N | 0.217 | 0.102 | 0.293147016451 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 4.78469E-04 |
| A/V | rs749194310 |
-0.171 | 0.003 | N | 0.217 | 0.102 | 0.293147016451 | gnomAD-4.0.0 | 2.31795E-04 | None | None | None | None | N | None | 1.33511E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.13641E-04 | 0 | 4.80384E-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 | 0.4196 | ambiguous | 0.4071 | ambiguous | -0.938 | Destabilizing | 0.944 | D | 0.699 | prob.neutral | None | None | None | None | N |
| A/D | 0.3254 | likely_benign | 0.3042 | benign | -1.021 | Destabilizing | 0.69 | D | 0.747 | deleterious | None | None | None | None | N |
| A/E | 0.2768 | likely_benign | 0.2502 | benign | -1.133 | Destabilizing | 0.193 | N | 0.665 | neutral | N | 0.51583922 | None | None | N |
| A/F | 0.3447 | ambiguous | 0.3122 | benign | -1.255 | Destabilizing | 0.818 | D | 0.759 | deleterious | None | None | None | None | N |
| A/G | 0.2205 | likely_benign | 0.2092 | benign | -0.941 | Destabilizing | 0.324 | N | 0.622 | neutral | N | 0.509992464 | None | None | N |
| A/H | 0.4841 | ambiguous | 0.4497 | ambiguous | -0.949 | Destabilizing | 0.944 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/I | 0.1597 | likely_benign | 0.1388 | benign | -0.619 | Destabilizing | 0.241 | N | 0.669 | neutral | None | None | None | None | N |
| A/K | 0.4093 | ambiguous | 0.3674 | ambiguous | -0.931 | Destabilizing | 0.002 | N | 0.351 | neutral | None | None | None | None | N |
| A/L | 0.1879 | likely_benign | 0.1611 | benign | -0.619 | Destabilizing | 0.116 | N | 0.631 | neutral | None | None | None | None | N |
| A/M | 0.1917 | likely_benign | 0.1637 | benign | -0.465 | Destabilizing | 0.818 | D | 0.721 | prob.delet. | None | None | None | None | N |
| A/N | 0.3003 | likely_benign | 0.2612 | benign | -0.638 | Destabilizing | 0.69 | D | 0.755 | deleterious | None | None | None | None | N |
| A/P | 0.9548 | likely_pathogenic | 0.9431 | pathogenic | -0.646 | Destabilizing | 0.773 | D | 0.759 | deleterious | N | 0.515018894 | None | None | N |
| A/Q | 0.3445 | ambiguous | 0.3158 | benign | -0.95 | Destabilizing | 0.69 | D | 0.751 | deleterious | None | None | None | None | N |
| A/R | 0.3837 | ambiguous | 0.3582 | ambiguous | -0.472 | Destabilizing | 0.241 | N | 0.744 | deleterious | None | None | None | None | N |
| A/S | 0.102 | likely_benign | 0.0991 | benign | -0.916 | Destabilizing | 0.09 | N | 0.591 | neutral | N | 0.518514166 | None | None | N |
| A/T | 0.0709 | likely_benign | 0.0687 | benign | -0.954 | Destabilizing | 0.001 | N | 0.218 | neutral | N | 0.491194279 | None | None | N |
| A/V | 0.0869 | likely_benign | 0.0786 | benign | -0.646 | Destabilizing | 0.003 | N | 0.217 | neutral | N | 0.482822725 | None | None | N |
| A/W | 0.7966 | likely_pathogenic | 0.7796 | pathogenic | -1.404 | Destabilizing | 0.981 | D | 0.756 | deleterious | None | None | None | None | N |
| A/Y | 0.4971 | ambiguous | 0.4574 | ambiguous | -1.049 | Destabilizing | 0.818 | D | 0.757 | deleterious | 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.