Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2342 | 7249;7250;7251 | chr2:178774240;178774239;178774238 | chr2:179638967;179638966;179638965 |
| N2AB | 2342 | 7249;7250;7251 | chr2:178774240;178774239;178774238 | chr2:179638967;179638966;179638965 |
| N2A | 2342 | 7249;7250;7251 | chr2:178774240;178774239;178774238 | chr2:179638967;179638966;179638965 |
| N2B | 2296 | 7111;7112;7113 | chr2:178774240;178774239;178774238 | chr2:179638967;179638966;179638965 |
| Novex-1 | 2296 | 7111;7112;7113 | chr2:178774240;178774239;178774238 | chr2:179638967;179638966;179638965 |
| Novex-2 | 2296 | 7111;7112;7113 | chr2:178774240;178774239;178774238 | chr2:179638967;179638966;179638965 |
| Novex-3 | 2342 | 7249;7250;7251 | chr2:178774240;178774239;178774238 | chr2:179638967;179638966;179638965 |
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 | rs2091934798  |
None | 0.984 | D | 0.675 | 0.457 | 0.581120218722 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| G/E | rs2091934798 |
None | 0.984 | D | 0.675 | 0.457 | 0.581120218722 | gnomAD-4.0.0 | 2.56151E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.68025E-05 | 0 |
| G/R | rs749933813 |
-0.335 | 1.0 | N | 0.718 | 0.557 | 0.721504376212 | gnomAD-2.1.1 | 1.77E-05 | None | None | None | None | I | None | 4.01E-05 | 2.83E-05 | None | 0 | 5.02E-05 | None | 3.27E-05 | None | 3.98E-05 | 0 | 0 |
| G/R | rs749933813 |
-0.335 | 1.0 | N | 0.718 | 0.557 | 0.721504376212 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| G/R | rs749933813 |
-0.335 | 1.0 | N | 0.718 | 0.557 | 0.721504376212 | gnomAD-4.0.0 | 4.33722E-06 | None | None | None | None | I | None | 1.33522E-05 | 1.6675E-05 | None | 0 | 2.22767E-05 | None | 1.56191E-05 | 0 | 1.69494E-06 | 1.09779E-05 | 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 | 0.2838 | likely_benign | 0.2551 | benign | -0.301 | Destabilizing | 0.996 | D | 0.567 | neutral | D | 0.608253402 | None | None | I |
| G/C | 0.4107 | ambiguous | 0.3913 | ambiguous | -1.023 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/D | 0.1406 | likely_benign | 0.1316 | benign | -0.732 | Destabilizing | 0.335 | N | 0.357 | neutral | None | None | None | None | I |
| G/E | 0.1824 | likely_benign | 0.1648 | benign | -0.87 | Destabilizing | 0.984 | D | 0.675 | prob.neutral | D | 0.54206263 | None | None | I |
| G/F | 0.7998 | likely_pathogenic | 0.7649 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/H | 0.3762 | ambiguous | 0.3546 | ambiguous | -0.412 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| G/I | 0.6171 | likely_pathogenic | 0.56 | ambiguous | -0.435 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| G/K | 0.3161 | likely_benign | 0.2893 | benign | -0.921 | Destabilizing | 0.998 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/L | 0.6988 | likely_pathogenic | 0.6526 | pathogenic | -0.435 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | I |
| G/M | 0.6735 | likely_pathogenic | 0.6337 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| G/N | 0.184 | likely_benign | 0.177 | benign | -0.648 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/P | 0.9644 | likely_pathogenic | 0.9472 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| G/Q | 0.247 | likely_benign | 0.2316 | benign | -0.886 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/R | 0.2447 | likely_benign | 0.2256 | benign | -0.474 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.508410534 | None | None | I |
| G/S | 0.1147 | likely_benign | 0.1089 | benign | -0.777 | Destabilizing | 0.994 | D | 0.621 | neutral | None | None | None | None | I |
| G/T | 0.2777 | likely_benign | 0.2454 | benign | -0.844 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/V | 0.5018 | ambiguous | 0.4461 | ambiguous | -0.36 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.562123516 | None | None | I |
| G/W | 0.6517 | likely_pathogenic | 0.6141 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.612833151 | None | None | I |
| G/Y | 0.6106 | likely_pathogenic | 0.5634 | ambiguous | -0.781 | Destabilizing | 1.0 | D | 0.761 | 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.