Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17262 | 52009;52010;52011 | chr2:178609526;178609525;178609524 | chr2:179474253;179474252;179474251 |
| N2AB | 15621 | 47086;47087;47088 | chr2:178609526;178609525;178609524 | chr2:179474253;179474252;179474251 |
| N2A | 14694 | 44305;44306;44307 | chr2:178609526;178609525;178609524 | chr2:179474253;179474252;179474251 |
| N2B | 8197 | 24814;24815;24816 | chr2:178609526;178609525;178609524 | chr2:179474253;179474252;179474251 |
| Novex-1 | 8322 | 25189;25190;25191 | chr2:178609526;178609525;178609524 | chr2:179474253;179474252;179474251 |
| Novex-2 | 8389 | 25390;25391;25392 | chr2:178609526;178609525;178609524 | chr2:179474253;179474252;179474251 |
| 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/S | rs2154198516  |
None | 1.0 | D | 0.809 | 0.759 | 0.579270068135 | gnomAD-4.0.0 | 4.78417E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.30812E-05 | 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 | 0.6726 | likely_pathogenic | 0.6539 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.599448679 | None | None | N |
| G/C | 0.7402 | likely_pathogenic | 0.7173 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.616073452 | None | None | N |
| G/D | 0.6784 | likely_pathogenic | 0.6507 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.581582719 | None | None | N |
| G/E | 0.7842 | likely_pathogenic | 0.757 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/F | 0.9455 | likely_pathogenic | 0.9402 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/H | 0.879 | likely_pathogenic | 0.8613 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/I | 0.9597 | likely_pathogenic | 0.9532 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/K | 0.874 | likely_pathogenic | 0.8504 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/L | 0.9241 | likely_pathogenic | 0.9175 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/M | 0.9301 | likely_pathogenic | 0.9243 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/N | 0.6546 | likely_pathogenic | 0.6444 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/P | 0.9953 | likely_pathogenic | 0.9926 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/Q | 0.8235 | likely_pathogenic | 0.804 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/R | 0.8182 | likely_pathogenic | 0.7855 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.599650483 | None | None | N |
| G/S | 0.4318 | ambiguous | 0.4261 | ambiguous | -0.738 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.582995349 | None | None | N |
| G/T | 0.7661 | likely_pathogenic | 0.7392 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/V | 0.9223 | likely_pathogenic | 0.9107 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.615871648 | None | None | N |
| G/W | 0.8771 | likely_pathogenic | 0.8521 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/Y | 0.8992 | likely_pathogenic | 0.8833 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.843 | 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.