Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31956 | 96091;96092;96093 | chr2:178544363;178544362;178544361 | chr2:179409090;179409089;179409088 |
| N2AB | 30315 | 91168;91169;91170 | chr2:178544363;178544362;178544361 | chr2:179409090;179409089;179409088 |
| N2A | 29388 | 88387;88388;88389 | chr2:178544363;178544362;178544361 | chr2:179409090;179409089;179409088 |
| N2B | 22891 | 68896;68897;68898 | chr2:178544363;178544362;178544361 | chr2:179409090;179409089;179409088 |
| Novex-1 | 23016 | 69271;69272;69273 | chr2:178544363;178544362;178544361 | chr2:179409090;179409089;179409088 |
| Novex-2 | 23083 | 69472;69473;69474 | chr2:178544363;178544362;178544361 | chr2:179409090;179409089;179409088 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1696042845  |
None | 1.0 | N | 0.749 | 0.527 | 0.750710799318 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs1696042845 |
None | 1.0 | N | 0.749 | 0.527 | 0.750710799318 | gnomAD-4.0.0 | 4.0599E-06 | None | None | None | None | N | None | 0 | 6.15764E-05 | None | 0 | 0 | None | 0 | 0 | 3.61479E-06 | 0 | 0 |
| W/S | None | None | 1.0 | N | 0.75 | 0.444 | 0.867512526637 | gnomAD-4.0.0 | 2.05268E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73491E-04 | 8.99507E-07 | 0 | 1.65651E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.943 | likely_pathogenic | 0.9447 | pathogenic | -2.967 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/C | 0.9769 | likely_pathogenic | 0.9775 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.491421596 | None | None | N |
| W/D | 0.9871 | likely_pathogenic | 0.9862 | pathogenic | -1.743 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/E | 0.99 | likely_pathogenic | 0.9895 | pathogenic | -1.665 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| W/F | 0.5836 | likely_pathogenic | 0.5866 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| W/G | 0.8407 | likely_pathogenic | 0.8355 | pathogenic | -3.157 | Highly Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.519298767 | None | None | N |
| W/H | 0.9647 | likely_pathogenic | 0.9659 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| W/I | 0.9459 | likely_pathogenic | 0.9472 | pathogenic | -2.27 | Highly Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| W/K | 0.9912 | likely_pathogenic | 0.991 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/L | 0.9017 | likely_pathogenic | 0.9067 | pathogenic | -2.27 | Highly Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.505749961 | None | None | N |
| W/M | 0.9649 | likely_pathogenic | 0.9682 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| W/N | 0.9776 | likely_pathogenic | 0.9794 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/P | 0.9698 | likely_pathogenic | 0.9699 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9922 | likely_pathogenic | 0.9924 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/R | 0.9874 | likely_pathogenic | 0.987 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.510486902 | None | None | N |
| W/S | 0.9156 | likely_pathogenic | 0.9189 | pathogenic | -2.296 | Highly Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.504548647 | None | None | N |
| W/T | 0.9456 | likely_pathogenic | 0.9483 | pathogenic | -2.175 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/V | 0.942 | likely_pathogenic | 0.9449 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/Y | 0.7319 | likely_pathogenic | 0.7304 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.61 | 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.