Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 996 | 3211;3212;3213 | chr2:178782920;178782919;178782918 | chr2:179647647;179647646;179647645 |
| N2AB | 996 | 3211;3212;3213 | chr2:178782920;178782919;178782918 | chr2:179647647;179647646;179647645 |
| N2A | 996 | 3211;3212;3213 | chr2:178782920;178782919;178782918 | chr2:179647647;179647646;179647645 |
| N2B | 950 | 3073;3074;3075 | chr2:178782920;178782919;178782918 | chr2:179647647;179647646;179647645 |
| Novex-1 | 950 | 3073;3074;3075 | chr2:178782920;178782919;178782918 | chr2:179647647;179647646;179647645 |
| Novex-2 | 950 | 3073;3074;3075 | chr2:178782920;178782919;178782918 | chr2:179647647;179647646;179647645 |
| Novex-3 | 996 | 3211;3212;3213 | chr2:178782920;178782919;178782918 | chr2:179647647;179647646;179647645 |
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 | None | None | 0.235 | D | 0.504 | 0.472 | 0.638114607455 | gnomAD-4.0.0 | 6.36215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14264E-05 | 0 | 0 |
| G/R | None | None | 0.993 | D | 0.768 | 0.468 | 0.814224319965 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.5421 | ambiguous | 0.5909 | pathogenic | -0.354 | Destabilizing | 0.955 | D | 0.58 | neutral | D | 0.627324369 | None | None | N |
| G/C | 0.7178 | likely_pathogenic | 0.7802 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| G/D | 0.4525 | ambiguous | 0.505 | ambiguous | -0.373 | Destabilizing | 0.99 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/E | 0.5477 | ambiguous | 0.6146 | pathogenic | -0.399 | Destabilizing | 0.235 | N | 0.504 | neutral | D | 0.522792367 | None | None | N |
| G/F | 0.9693 | likely_pathogenic | 0.9792 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/H | 0.7102 | likely_pathogenic | 0.7661 | pathogenic | -1.039 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| G/I | 0.9487 | likely_pathogenic | 0.9665 | pathogenic | 0.098 | Stabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | N |
| G/K | 0.7229 | likely_pathogenic | 0.7743 | pathogenic | -0.813 | Destabilizing | 0.99 | D | 0.743 | deleterious | None | None | None | None | N |
| G/L | 0.9414 | likely_pathogenic | 0.9584 | pathogenic | 0.098 | Stabilizing | 0.995 | D | 0.759 | deleterious | None | None | None | None | N |
| G/M | 0.9371 | likely_pathogenic | 0.9533 | pathogenic | -0.02 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/N | 0.478 | ambiguous | 0.474 | ambiguous | -0.559 | Destabilizing | 0.995 | D | 0.807 | deleterious | None | None | None | None | N |
| G/P | 0.986 | likely_pathogenic | 0.9897 | pathogenic | -0.009 | Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Q | 0.6053 | likely_pathogenic | 0.6517 | pathogenic | -0.622 | Destabilizing | 0.99 | D | 0.767 | deleterious | None | None | None | None | N |
| G/R | 0.537 | ambiguous | 0.6278 | pathogenic | -0.686 | Destabilizing | 0.993 | D | 0.768 | deleterious | D | 0.576164699 | None | None | N |
| G/S | 0.2123 | likely_benign | 0.229 | benign | -0.887 | Destabilizing | 0.835 | D | 0.388 | neutral | None | None | None | None | N |
| G/T | 0.6677 | likely_pathogenic | 0.72 | pathogenic | -0.808 | Destabilizing | 0.99 | D | 0.755 | deleterious | None | None | None | None | N |
| G/V | 0.8918 | likely_pathogenic | 0.9284 | pathogenic | -0.009 | Destabilizing | 0.997 | D | 0.762 | deleterious | D | 0.648941788 | None | None | N |
| G/W | 0.9011 | likely_pathogenic | 0.9407 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/Y | 0.9073 | likely_pathogenic | 0.9362 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.76 | 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.