Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21333 | 64222;64223;64224 | chr2:178587214;178587213;178587212 | chr2:179451941;179451940;179451939 |
| N2AB | 19692 | 59299;59300;59301 | chr2:178587214;178587213;178587212 | chr2:179451941;179451940;179451939 |
| N2A | 18765 | 56518;56519;56520 | chr2:178587214;178587213;178587212 | chr2:179451941;179451940;179451939 |
| N2B | 12268 | 37027;37028;37029 | chr2:178587214;178587213;178587212 | chr2:179451941;179451940;179451939 |
| Novex-1 | 12393 | 37402;37403;37404 | chr2:178587214;178587213;178587212 | chr2:179451941;179451940;179451939 |
| Novex-2 | 12460 | 37603;37604;37605 | chr2:178587214;178587213;178587212 | chr2:179451941;179451940;179451939 |
| 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/R | rs2049211190  |
None | 1.0 | N | 0.86 | 0.737 | 0.729310037079 | gnomAD-4.0.0 | 3.18457E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72099E-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 | 0.5033 | ambiguous | 0.4324 | ambiguous | -0.618 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.491027792 | None | None | N |
| G/C | 0.6156 | likely_pathogenic | 0.5295 | ambiguous | -0.923 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/D | 0.7213 | likely_pathogenic | 0.5287 | ambiguous | -0.976 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/E | 0.7484 | likely_pathogenic | 0.5572 | ambiguous | -1.117 | Destabilizing | 1.0 | D | 0.864 | deleterious | N | 0.505182028 | None | None | N |
| G/F | 0.934 | likely_pathogenic | 0.8937 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/H | 0.834 | likely_pathogenic | 0.7066 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/I | 0.9243 | likely_pathogenic | 0.8965 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/K | 0.8688 | likely_pathogenic | 0.7438 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/L | 0.8627 | likely_pathogenic | 0.8085 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/M | 0.8732 | likely_pathogenic | 0.8216 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/N | 0.5927 | likely_pathogenic | 0.4546 | ambiguous | -0.797 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/P | 0.9913 | likely_pathogenic | 0.9863 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/Q | 0.7228 | likely_pathogenic | 0.5649 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/R | 0.771 | likely_pathogenic | 0.608 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.518944643 | None | None | N |
| G/S | 0.2932 | likely_benign | 0.232 | benign | -0.965 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/T | 0.6099 | likely_pathogenic | 0.5214 | ambiguous | -1.042 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/V | 0.8424 | likely_pathogenic | 0.7922 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.534846852 | None | None | N |
| G/W | 0.8619 | likely_pathogenic | 0.7669 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.484826501 | None | None | N |
| G/Y | 0.8804 | likely_pathogenic | 0.8006 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.814 | 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.