Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26946 | 81061;81062;81063 | chr2:178565296;178565295;178565294 | chr2:179430023;179430022;179430021 |
| N2AB | 25305 | 76138;76139;76140 | chr2:178565296;178565295;178565294 | chr2:179430023;179430022;179430021 |
| N2A | 24378 | 73357;73358;73359 | chr2:178565296;178565295;178565294 | chr2:179430023;179430022;179430021 |
| N2B | 17881 | 53866;53867;53868 | chr2:178565296;178565295;178565294 | chr2:179430023;179430022;179430021 |
| Novex-1 | 18006 | 54241;54242;54243 | chr2:178565296;178565295;178565294 | chr2:179430023;179430022;179430021 |
| Novex-2 | 18073 | 54442;54443;54444 | chr2:178565296;178565295;178565294 | chr2:179430023;179430022;179430021 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/V | rs1705319606  |
None | 1.0 | D | 0.811 | 0.89 | 0.924449110081 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs1705319606 |
None | 1.0 | D | 0.811 | 0.89 | 0.924449110081 | gnomAD-4.0.0 | 6.57419E-06 | None | None | None | None | N | None | 0 | 6.56082E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs571011004 |
0.464 | 1.0 | D | 0.83 | 0.88 | 0.903031728821 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67112E-04 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs571011004 |
0.464 | 1.0 | D | 0.83 | 0.88 | 0.903031728821 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.87147E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs571011004 |
0.464 | 1.0 | D | 0.83 | 0.88 | 0.903031728821 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| D/Y | rs571011004 |
0.464 | 1.0 | D | 0.83 | 0.88 | 0.903031728821 | gnomAD-4.0.0 | 2.4789E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.92021E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9701 | likely_pathogenic | 0.963 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.648283618 | None | None | N |
| D/C | 0.9872 | likely_pathogenic | 0.9799 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| D/E | 0.9596 | likely_pathogenic | 0.9479 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.593 | neutral | D | 0.621534681 | None | None | N |
| D/F | 0.9951 | likely_pathogenic | 0.9936 | pathogenic | 0.086 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/G | 0.9792 | likely_pathogenic | 0.9743 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.648485422 | None | None | N |
| D/H | 0.9682 | likely_pathogenic | 0.9506 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.545373957 | None | None | N |
| D/I | 0.983 | likely_pathogenic | 0.9795 | pathogenic | 0.953 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/K | 0.9948 | likely_pathogenic | 0.9937 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/L | 0.9864 | likely_pathogenic | 0.9854 | pathogenic | 0.953 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/M | 0.9966 | likely_pathogenic | 0.9953 | pathogenic | 1.513 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/N | 0.8777 | likely_pathogenic | 0.841 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.606969029 | None | None | N |
| D/P | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | 0.582 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| D/Q | 0.9926 | likely_pathogenic | 0.9902 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| D/R | 0.9933 | likely_pathogenic | 0.9927 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/S | 0.9377 | likely_pathogenic | 0.9167 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| D/T | 0.9782 | likely_pathogenic | 0.9721 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| D/V | 0.9644 | likely_pathogenic | 0.9559 | pathogenic | 0.582 | Stabilizing | 1.0 | D | 0.811 | deleterious | D | 0.664908392 | None | None | N |
| D/W | 0.999 | likely_pathogenic | 0.9988 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/Y | 0.9614 | likely_pathogenic | 0.9505 | pathogenic | 0.298 | Stabilizing | 1.0 | D | 0.83 | deleterious | D | 0.648687227 | 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.