Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17160 | 51703;51704;51705 | chr2:178609945;178609944;178609943 | chr2:179474672;179474671;179474670 |
| N2AB | 15519 | 46780;46781;46782 | chr2:178609945;178609944;178609943 | chr2:179474672;179474671;179474670 |
| N2A | 14592 | 43999;44000;44001 | chr2:178609945;178609944;178609943 | chr2:179474672;179474671;179474670 |
| N2B | 8095 | 24508;24509;24510 | chr2:178609945;178609944;178609943 | chr2:179474672;179474671;179474670 |
| Novex-1 | 8220 | 24883;24884;24885 | chr2:178609945;178609944;178609943 | chr2:179474672;179474671;179474670 |
| Novex-2 | 8287 | 25084;25085;25086 | chr2:178609945;178609944;178609943 | chr2:179474672;179474671;179474670 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 1.0 | N | 0.773 | 0.521 | 0.605592448911 | 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 |
| T/S | None | None | 0.999 | N | 0.513 | 0.392 | 0.201204373187 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2608 | likely_benign | 0.2384 | benign | -0.669 | Destabilizing | 0.999 | D | 0.483 | neutral | N | 0.471501051 | None | None | N |
| T/C | 0.7305 | likely_pathogenic | 0.7099 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| T/D | 0.6702 | likely_pathogenic | 0.6391 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/E | 0.6871 | likely_pathogenic | 0.6568 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| T/F | 0.7883 | likely_pathogenic | 0.7785 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| T/G | 0.4373 | ambiguous | 0.3976 | ambiguous | -0.96 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| T/H | 0.5809 | likely_pathogenic | 0.5636 | ambiguous | -1.402 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| T/I | 0.7585 | likely_pathogenic | 0.7383 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.773 | deleterious | N | 0.513585364 | None | None | N |
| T/K | 0.3834 | ambiguous | 0.3728 | ambiguous | -0.973 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.47717259 | None | None | N |
| T/L | 0.3927 | ambiguous | 0.3743 | ambiguous | 0.025 | Stabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| T/M | 0.3066 | likely_benign | 0.2925 | benign | 0.38 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| T/N | 0.2803 | likely_benign | 0.2589 | benign | -1.021 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/P | 0.8163 | likely_pathogenic | 0.77 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.513585364 | None | None | N |
| T/Q | 0.4804 | ambiguous | 0.4619 | ambiguous | -1.144 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/R | 0.3425 | ambiguous | 0.3229 | benign | -0.79 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.473703097 | None | None | N |
| T/S | 0.1551 | likely_benign | 0.1456 | benign | -1.123 | Destabilizing | 0.999 | D | 0.513 | neutral | N | 0.455990335 | None | None | N |
| T/V | 0.5215 | ambiguous | 0.506 | ambiguous | -0.174 | Destabilizing | 0.999 | D | 0.578 | neutral | None | None | None | None | N |
| T/W | 0.9423 | likely_pathogenic | 0.9351 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| T/Y | 0.7901 | likely_pathogenic | 0.7714 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.773 | 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.