Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29718 | 89377;89378;89379 | chr2:178553959;178553958;178553957 | chr2:179418686;179418685;179418684 |
| N2AB | 28077 | 84454;84455;84456 | chr2:178553959;178553958;178553957 | chr2:179418686;179418685;179418684 |
| N2A | 27150 | 81673;81674;81675 | chr2:178553959;178553958;178553957 | chr2:179418686;179418685;179418684 |
| N2B | 20653 | 62182;62183;62184 | chr2:178553959;178553958;178553957 | chr2:179418686;179418685;179418684 |
| Novex-1 | 20778 | 62557;62558;62559 | chr2:178553959;178553958;178553957 | chr2:179418686;179418685;179418684 |
| Novex-2 | 20845 | 62758;62759;62760 | chr2:178553959;178553958;178553957 | chr2:179418686;179418685;179418684 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs765594600  |
-1.442 | 0.998 | N | 0.678 | 0.317 | 0.297718772494 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| P/A | rs765594600 |
-1.442 | 0.998 | N | 0.678 | 0.317 | 0.297718772494 | gnomAD-4.0.0 | 1.44141E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8904E-05 | 0 | 0 |
| P/R | None | None | 0.999 | N | 0.796 | 0.36 | 0.525102498511 | gnomAD-4.0.0 | 3.20749E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.73207E-06 | 0 | 0 |
| P/S | rs765594600 |
None | 0.996 | N | 0.688 | 0.312 | 0.319686207203 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs765594600 |
None | 0.996 | N | 0.688 | 0.312 | 0.319686207203 | gnomAD-4.0.0 | 6.57117E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46972E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0965 | likely_benign | 0.1032 | benign | -1.43 | Destabilizing | 0.998 | D | 0.678 | prob.neutral | N | 0.488737472 | None | None | I |
| P/C | 0.4782 | ambiguous | 0.4957 | ambiguous | -0.821 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| P/D | 0.4245 | ambiguous | 0.4452 | ambiguous | -1.175 | Destabilizing | 0.994 | D | 0.711 | prob.delet. | None | None | None | None | I |
| P/E | 0.2601 | likely_benign | 0.2747 | benign | -1.197 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | I |
| P/F | 0.4766 | ambiguous | 0.5178 | ambiguous | -1.157 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| P/G | 0.3545 | ambiguous | 0.3831 | ambiguous | -1.721 | Destabilizing | 0.997 | D | 0.697 | prob.neutral | None | None | None | None | I |
| P/H | 0.2443 | likely_benign | 0.2662 | benign | -1.229 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| P/I | 0.2393 | likely_benign | 0.2566 | benign | -0.737 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| P/K | 0.2941 | likely_benign | 0.3 | benign | -1.061 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | I |
| P/L | 0.119 | likely_benign | 0.127 | benign | -0.737 | Destabilizing | 0.999 | D | 0.78 | deleterious | N | 0.513115841 | None | None | I |
| P/M | 0.2703 | likely_benign | 0.2905 | benign | -0.504 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| P/N | 0.3017 | likely_benign | 0.3221 | benign | -0.79 | Destabilizing | 0.813 | D | 0.525 | neutral | None | None | None | None | I |
| P/Q | 0.1743 | likely_benign | 0.1866 | benign | -1.007 | Destabilizing | 0.999 | D | 0.798 | deleterious | N | 0.509920821 | None | None | I |
| P/R | 0.2289 | likely_benign | 0.2395 | benign | -0.513 | Destabilizing | 0.999 | D | 0.796 | deleterious | N | 0.476132179 | None | None | I |
| P/S | 0.1633 | likely_benign | 0.1755 | benign | -1.301 | Destabilizing | 0.996 | D | 0.688 | prob.neutral | N | 0.47910792 | None | None | I |
| P/T | 0.1294 | likely_benign | 0.1402 | benign | -1.221 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | N | 0.511248972 | None | None | I |
| P/V | 0.1676 | likely_benign | 0.1828 | benign | -0.933 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| P/W | 0.7168 | likely_pathogenic | 0.7628 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| P/Y | 0.4503 | ambiguous | 0.4808 | ambiguous | -1.03 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
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.