Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19169 | 57730;57731;57732 | chr2:178597577;178597576;178597575 | chr2:179462304;179462303;179462302 |
| N2AB | 17528 | 52807;52808;52809 | chr2:178597577;178597576;178597575 | chr2:179462304;179462303;179462302 |
| N2A | 16601 | 50026;50027;50028 | chr2:178597577;178597576;178597575 | chr2:179462304;179462303;179462302 |
| N2B | 10104 | 30535;30536;30537 | chr2:178597577;178597576;178597575 | chr2:179462304;179462303;179462302 |
| Novex-1 | 10229 | 30910;30911;30912 | chr2:178597577;178597576;178597575 | chr2:179462304;179462303;179462302 |
| Novex-2 | 10296 | 31111;31112;31113 | chr2:178597577;178597576;178597575 | chr2:179462304;179462303;179462302 |
| 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/D | rs183460369  |
-0.281 | 0.055 | N | 0.563 | 0.235 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/S | None | None | 0.012 | N | 0.371 | 0.213 | 0.251639045875 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/V | rs183460369 |
-0.114 | 0.106 | N | 0.354 | 0.164 | 0.188950314367 | 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 |
| A/V | rs183460369 |
-0.114 | 0.106 | N | 0.354 | 0.164 | 0.188950314367 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs183460369 |
-0.114 | 0.106 | N | 0.354 | 0.164 | 0.188950314367 | gnomAD-4.0.0 | 6.57973E-06 | None | None | None | None | I | None | 2.41499E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3294 | likely_benign | 0.3891 | ambiguous | -0.721 | Destabilizing | 0.864 | D | 0.457 | neutral | None | None | None | None | I |
| A/D | 0.5268 | ambiguous | 0.5192 | ambiguous | -0.638 | Destabilizing | 0.055 | N | 0.563 | neutral | N | 0.504004983 | None | None | I |
| A/E | 0.4931 | ambiguous | 0.5041 | ambiguous | -0.805 | Destabilizing | 0.136 | N | 0.45 | neutral | None | None | None | None | I |
| A/F | 0.4329 | ambiguous | 0.4163 | ambiguous | -0.963 | Destabilizing | 0.628 | D | 0.619 | neutral | None | None | None | None | I |
| A/G | 0.062 | likely_benign | 0.0683 | benign | -0.223 | Destabilizing | None | N | 0.281 | neutral | N | 0.480611926 | None | None | I |
| A/H | 0.6336 | likely_pathogenic | 0.6257 | pathogenic | -0.312 | Destabilizing | 0.628 | D | 0.621 | neutral | None | None | None | None | I |
| A/I | 0.3525 | ambiguous | 0.3903 | ambiguous | -0.376 | Destabilizing | 0.356 | N | 0.515 | neutral | None | None | None | None | I |
| A/K | 0.6607 | likely_pathogenic | 0.6958 | pathogenic | -0.577 | Destabilizing | 0.072 | N | 0.447 | neutral | None | None | None | None | I |
| A/L | 0.2931 | likely_benign | 0.312 | benign | -0.376 | Destabilizing | 0.072 | N | 0.46 | neutral | None | None | None | None | I |
| A/M | 0.3433 | ambiguous | 0.3649 | ambiguous | -0.404 | Destabilizing | 0.864 | D | 0.536 | neutral | None | None | None | None | I |
| A/N | 0.3958 | ambiguous | 0.3914 | ambiguous | -0.235 | Destabilizing | 0.072 | N | 0.555 | neutral | None | None | None | None | I |
| A/P | 0.7961 | likely_pathogenic | 0.8029 | pathogenic | -0.292 | Destabilizing | 0.106 | N | 0.483 | neutral | D | 0.522109238 | None | None | I |
| A/Q | 0.5165 | ambiguous | 0.5365 | ambiguous | -0.542 | Destabilizing | 0.356 | N | 0.525 | neutral | None | None | None | None | I |
| A/R | 0.5958 | likely_pathogenic | 0.6286 | pathogenic | -0.102 | Destabilizing | 0.356 | N | 0.493 | neutral | None | None | None | None | I |
| A/S | 0.1021 | likely_benign | 0.1049 | benign | -0.375 | Destabilizing | 0.012 | N | 0.371 | neutral | N | 0.508817247 | None | None | I |
| A/T | 0.1369 | likely_benign | 0.1471 | benign | -0.472 | Destabilizing | 0.055 | N | 0.348 | neutral | N | 0.507457569 | None | None | I |
| A/V | 0.1628 | likely_benign | 0.1882 | benign | -0.292 | Destabilizing | 0.106 | N | 0.354 | neutral | N | 0.490460773 | None | None | I |
| A/W | 0.788 | likely_pathogenic | 0.7839 | pathogenic | -1.087 | Destabilizing | 0.864 | D | 0.615 | neutral | None | None | None | None | I |
| A/Y | 0.5431 | ambiguous | 0.5341 | ambiguous | -0.745 | Destabilizing | 0.628 | D | 0.611 | 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.