Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23598 | 71017;71018;71019 | chr2:178575340;178575339;178575338 | chr2:179440067;179440066;179440065 |
| N2AB | 21957 | 66094;66095;66096 | chr2:178575340;178575339;178575338 | chr2:179440067;179440066;179440065 |
| N2A | 21030 | 63313;63314;63315 | chr2:178575340;178575339;178575338 | chr2:179440067;179440066;179440065 |
| N2B | 14533 | 43822;43823;43824 | chr2:178575340;178575339;178575338 | chr2:179440067;179440066;179440065 |
| Novex-1 | 14658 | 44197;44198;44199 | chr2:178575340;178575339;178575338 | chr2:179440067;179440066;179440065 |
| Novex-2 | 14725 | 44398;44399;44400 | chr2:178575340;178575339;178575338 | chr2:179440067;179440066;179440065 |
| 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 | rs1256646891  |
-1.357 | 0.995 | N | 0.699 | 0.399 | 0.456275507713 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/E | rs1256646891 |
-1.357 | 0.995 | N | 0.699 | 0.399 | 0.456275507713 | gnomAD-4.0.0 | 1.59185E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
| G/R | None | None | 0.995 | N | 0.773 | 0.469 | 0.571278246138 | gnomAD-4.0.0 | 1.59184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-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 | 0.3207 | likely_benign | 0.3395 | benign | -0.393 | Destabilizing | 0.904 | D | 0.581 | neutral | N | 0.487736109 | None | None | N |
| G/C | 0.42 | ambiguous | 0.4545 | ambiguous | -0.891 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/D | 0.2287 | likely_benign | 0.2192 | benign | -0.595 | Destabilizing | 0.93 | D | 0.627 | neutral | None | None | None | None | N |
| G/E | 0.352 | ambiguous | 0.3395 | benign | -0.718 | Destabilizing | 0.995 | D | 0.699 | prob.neutral | N | 0.487242357 | None | None | N |
| G/F | 0.7693 | likely_pathogenic | 0.7992 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/H | 0.5118 | ambiguous | 0.5345 | ambiguous | -0.72 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| G/I | 0.789 | likely_pathogenic | 0.8062 | pathogenic | -0.323 | Destabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | N |
| G/K | 0.5932 | likely_pathogenic | 0.6033 | pathogenic | -1.042 | Destabilizing | 0.996 | D | 0.7 | prob.neutral | None | None | None | None | N |
| G/L | 0.6546 | likely_pathogenic | 0.6862 | pathogenic | -0.323 | Destabilizing | 0.998 | D | 0.783 | deleterious | None | None | None | None | N |
| G/M | 0.6461 | likely_pathogenic | 0.6827 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/N | 0.1796 | likely_benign | 0.1911 | benign | -0.701 | Destabilizing | 0.086 | N | 0.327 | neutral | None | None | None | None | N |
| G/P | 0.9808 | likely_pathogenic | 0.9828 | pathogenic | -0.308 | Destabilizing | 0.998 | D | 0.798 | deleterious | None | None | None | None | N |
| G/Q | 0.4688 | ambiguous | 0.4767 | ambiguous | -0.935 | Destabilizing | 0.998 | D | 0.798 | deleterious | None | None | None | None | N |
| G/R | 0.528 | ambiguous | 0.5371 | ambiguous | -0.62 | Destabilizing | 0.995 | D | 0.773 | deleterious | N | 0.517463386 | None | None | N |
| G/S | 0.1612 | likely_benign | 0.1677 | benign | -0.907 | Destabilizing | 0.862 | D | 0.576 | neutral | None | None | None | None | N |
| G/T | 0.3881 | ambiguous | 0.4 | ambiguous | -0.953 | Destabilizing | 0.996 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/V | 0.6659 | likely_pathogenic | 0.684 | pathogenic | -0.308 | Destabilizing | 0.997 | D | 0.794 | deleterious | D | 0.529744744 | None | None | N |
| G/W | 0.5937 | likely_pathogenic | 0.6022 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Y | 0.5501 | ambiguous | 0.5844 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.819 | 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.