Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18595 | 56008;56009;56010 | chr2:178601121;178601120;178601119 | chr2:179465848;179465847;179465846 |
| N2AB | 16954 | 51085;51086;51087 | chr2:178601121;178601120;178601119 | chr2:179465848;179465847;179465846 |
| N2A | 16027 | 48304;48305;48306 | chr2:178601121;178601120;178601119 | chr2:179465848;179465847;179465846 |
| N2B | 9530 | 28813;28814;28815 | chr2:178601121;178601120;178601119 | chr2:179465848;179465847;179465846 |
| Novex-1 | 9655 | 29188;29189;29190 | chr2:178601121;178601120;178601119 | chr2:179465848;179465847;179465846 |
| Novex-2 | 9722 | 29389;29390;29391 | chr2:178601121;178601120;178601119 | chr2:179465848;179465847;179465846 |
| 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/P | None | None | 0.997 | N | 0.768 | 0.526 | 0.52468985305 | 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/R | rs770499179  |
-0.859 | 0.993 | N | 0.769 | 0.42 | None | gnomAD-2.1.1 | 4.49E-05 | None | None | None | None | N | None | 0 | 2.0404E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.47E-05 | 1.64582E-04 |
| T/R | rs770499179 |
-0.859 | 0.993 | N | 0.769 | 0.42 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 5.90706E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs770499179 |
-0.859 | 0.993 | N | 0.769 | 0.42 | None | gnomAD-4.0.0 | 1.9058E-05 | None | None | None | None | N | None | 0 | 2.7787E-04 | None | 0 | 0 | None | 0 | 0 | 1.20472E-05 | 0 | 1.64761E-05 |
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 | 0.1358 | likely_benign | 0.1211 | benign | -1.069 | Destabilizing | 0.898 | D | 0.475 | neutral | N | 0.459665359 | None | None | N |
| T/C | 0.5333 | ambiguous | 0.4816 | ambiguous | -1.191 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| T/D | 0.6785 | likely_pathogenic | 0.6055 | pathogenic | -1.91 | Destabilizing | 0.995 | D | 0.714 | prob.delet. | None | None | None | None | N |
| T/E | 0.5557 | ambiguous | 0.4821 | ambiguous | -1.784 | Destabilizing | 0.995 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/F | 0.4983 | ambiguous | 0.41 | ambiguous | -0.889 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| T/G | 0.4114 | ambiguous | 0.3866 | ambiguous | -1.394 | Destabilizing | 0.966 | D | 0.638 | neutral | None | None | None | None | N |
| T/H | 0.3695 | ambiguous | 0.3051 | benign | -1.569 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| T/I | 0.552 | ambiguous | 0.3961 | ambiguous | -0.252 | Destabilizing | 0.997 | D | 0.767 | deleterious | N | 0.510979613 | None | None | N |
| T/K | 0.3796 | ambiguous | 0.3155 | benign | -0.918 | Destabilizing | 0.993 | D | 0.711 | prob.delet. | N | 0.517230795 | None | None | N |
| T/L | 0.2994 | likely_benign | 0.2282 | benign | -0.252 | Destabilizing | 0.983 | D | 0.619 | neutral | None | None | None | None | N |
| T/M | 0.1532 | likely_benign | 0.1247 | benign | -0.277 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| T/N | 0.2685 | likely_benign | 0.2105 | benign | -1.425 | Destabilizing | 0.995 | D | 0.67 | neutral | None | None | None | None | N |
| T/P | 0.941 | likely_pathogenic | 0.9001 | pathogenic | -0.494 | Destabilizing | 0.997 | D | 0.768 | deleterious | N | 0.488818384 | None | None | N |
| T/Q | 0.3651 | ambiguous | 0.3152 | benign | -1.429 | Destabilizing | 0.998 | D | 0.778 | deleterious | None | None | None | None | N |
| T/R | 0.3086 | likely_benign | 0.2494 | benign | -0.847 | Destabilizing | 0.993 | D | 0.769 | deleterious | N | 0.505899081 | None | None | N |
| T/S | 0.1164 | likely_benign | 0.1128 | benign | -1.53 | Destabilizing | 0.362 | N | 0.369 | neutral | N | 0.383332442 | None | None | N |
| T/V | 0.3709 | ambiguous | 0.2771 | benign | -0.494 | Destabilizing | 0.983 | D | 0.548 | neutral | None | None | None | None | N |
| T/W | 0.8323 | likely_pathogenic | 0.7828 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/Y | 0.5014 | ambiguous | 0.4477 | ambiguous | -0.651 | Destabilizing | 0.999 | D | 0.825 | 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.