Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33102 | 99529;99530;99531 | chr2:178537903;178537902;178537901 | chr2:179402630;179402629;179402628 |
| N2AB | 31461 | 94606;94607;94608 | chr2:178537903;178537902;178537901 | chr2:179402630;179402629;179402628 |
| N2A | 30534 | 91825;91826;91827 | chr2:178537903;178537902;178537901 | chr2:179402630;179402629;179402628 |
| N2B | 24037 | 72334;72335;72336 | chr2:178537903;178537902;178537901 | chr2:179402630;179402629;179402628 |
| Novex-1 | 24162 | 72709;72710;72711 | chr2:178537903;178537902;178537901 | chr2:179402630;179402629;179402628 |
| Novex-2 | 24229 | 72910;72911;72912 | chr2:178537903;178537902;178537901 | chr2:179402630;179402629;179402628 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs751364205  |
-0.368 | 0.969 | N | 0.402 | 0.25 | 0.423119698836 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.13E-06 | 0 |
| G/E | rs751364205 |
-0.368 | 0.969 | N | 0.402 | 0.25 | 0.423119698836 | 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 |
| G/E | rs751364205 |
-0.368 | 0.969 | N | 0.402 | 0.25 | 0.423119698836 | gnomAD-4.0.0 | 5.59203E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.7955E-06 | 0 | 1.60539E-05 |
| G/R | rs548615687 |
-0.438 | 0.985 | N | 0.467 | 0.332 | 0.554037457546 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/R | rs548615687 |
-0.438 | 0.985 | N | 0.467 | 0.332 | 0.554037457546 | 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 |
| G/R | rs548615687 |
-0.438 | 0.985 | N | 0.467 | 0.332 | 0.554037457546 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/R | rs548615687 |
-0.438 | 0.985 | N | 0.467 | 0.332 | 0.554037457546 | gnomAD-4.0.0 | 2.48548E-06 | None | None | None | None | N | None | 1.33747E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.5484E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.079 | likely_benign | 0.0979 | benign | -0.285 | Destabilizing | 0.002 | N | 0.139 | neutral | N | 0.384119955 | None | None | N |
| G/C | 0.1675 | likely_benign | 0.194 | benign | -0.77 | Destabilizing | 0.069 | N | 0.422 | neutral | None | None | None | None | N |
| G/D | 0.2905 | likely_benign | 0.3389 | benign | -0.531 | Destabilizing | 0.969 | D | 0.411 | neutral | None | None | None | None | N |
| G/E | 0.2134 | likely_benign | 0.2511 | benign | -0.598 | Destabilizing | 0.969 | D | 0.402 | neutral | N | 0.337635517 | None | None | N |
| G/F | 0.4291 | ambiguous | 0.5347 | ambiguous | -0.624 | Destabilizing | 0.988 | D | 0.513 | neutral | None | None | None | None | N |
| G/H | 0.3576 | ambiguous | 0.4262 | ambiguous | -0.747 | Destabilizing | 0.999 | D | 0.477 | neutral | None | None | None | None | N |
| G/I | 0.1445 | likely_benign | 0.199 | benign | -0.031 | Destabilizing | 0.856 | D | 0.428 | neutral | None | None | None | None | N |
| G/K | 0.3923 | ambiguous | 0.4421 | ambiguous | -0.979 | Destabilizing | 0.977 | D | 0.402 | neutral | None | None | None | None | N |
| G/L | 0.2492 | likely_benign | 0.356 | ambiguous | -0.031 | Destabilizing | 0.856 | D | 0.42 | neutral | None | None | None | None | N |
| G/M | 0.3023 | likely_benign | 0.3941 | ambiguous | -0.275 | Destabilizing | 0.997 | D | 0.512 | neutral | None | None | None | None | N |
| G/N | 0.2447 | likely_benign | 0.3268 | benign | -0.718 | Destabilizing | 0.988 | D | 0.453 | neutral | None | None | None | None | N |
| G/P | 0.9596 | likely_pathogenic | 0.9722 | pathogenic | -0.075 | Destabilizing | 0.969 | D | 0.453 | neutral | None | None | None | None | N |
| G/Q | 0.2713 | likely_benign | 0.3287 | benign | -0.851 | Destabilizing | 0.988 | D | 0.472 | neutral | None | None | None | None | N |
| G/R | 0.2787 | likely_benign | 0.3031 | benign | -0.693 | Destabilizing | 0.985 | D | 0.467 | neutral | N | 0.355933276 | None | None | N |
| G/S | 0.0778 | likely_benign | 0.092 | benign | -0.947 | Destabilizing | 0.51 | D | 0.38 | neutral | None | None | None | None | N |
| G/T | 0.0969 | likely_benign | 0.1272 | benign | -0.924 | Destabilizing | 0.922 | D | 0.395 | neutral | None | None | None | None | N |
| G/V | 0.1022 | likely_benign | 0.1342 | benign | -0.075 | Destabilizing | 0.107 | N | 0.387 | neutral | N | 0.32534101 | None | None | N |
| G/W | 0.4586 | ambiguous | 0.5212 | ambiguous | -0.981 | Destabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | N |
| G/Y | 0.3885 | ambiguous | 0.4741 | ambiguous | -0.533 | Destabilizing | 0.996 | D | 0.522 | 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.