Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27503 | 82732;82733;82734 | chr2:178563625;178563624;178563623 | chr2:179428352;179428351;179428350 |
| N2AB | 25862 | 77809;77810;77811 | chr2:178563625;178563624;178563623 | chr2:179428352;179428351;179428350 |
| N2A | 24935 | 75028;75029;75030 | chr2:178563625;178563624;178563623 | chr2:179428352;179428351;179428350 |
| N2B | 18438 | 55537;55538;55539 | chr2:178563625;178563624;178563623 | chr2:179428352;179428351;179428350 |
| Novex-1 | 18563 | 55912;55913;55914 | chr2:178563625;178563624;178563623 | chr2:179428352;179428351;179428350 |
| Novex-2 | 18630 | 56113;56114;56115 | chr2:178563625;178563624;178563623 | chr2:179428352;179428351;179428350 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1192596225  |
-0.586 | 1.0 | N | 0.585 | 0.51 | 0.394837016283 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/A | rs1192596225 |
-0.586 | 1.0 | N | 0.585 | 0.51 | 0.394837016283 | gnomAD-4.0.0 | 1.23156E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61906E-05 | 0 | 0 |
| G/C | None | None | 1.0 | N | 0.801 | 0.516 | 0.694245931115 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.4108E-04 | 0 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.84 | 0.494 | 0.459370960843 | gnomAD-4.0.0 | 6.15779E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09529E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2134 | likely_benign | 0.2292 | benign | -0.746 | Destabilizing | 1.0 | D | 0.585 | neutral | N | 0.495316525 | None | None | N |
| G/C | 0.2629 | likely_benign | 0.2703 | benign | -0.993 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.511574356 | None | None | N |
| G/D | 0.5387 | ambiguous | 0.5728 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.84 | deleterious | N | 0.508407577 | None | None | N |
| G/E | 0.5919 | likely_pathogenic | 0.6309 | pathogenic | -1.393 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/F | 0.7849 | likely_pathogenic | 0.8067 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/H | 0.5035 | ambiguous | 0.5209 | ambiguous | -1.402 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/I | 0.7041 | likely_pathogenic | 0.7546 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/K | 0.6672 | likely_pathogenic | 0.6936 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/L | 0.7641 | likely_pathogenic | 0.7827 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/M | 0.7309 | likely_pathogenic | 0.7572 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/N | 0.3194 | likely_benign | 0.3181 | benign | -0.992 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/P | 0.9964 | likely_pathogenic | 0.996 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| G/Q | 0.5671 | likely_pathogenic | 0.5967 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/R | 0.5246 | ambiguous | 0.5548 | ambiguous | -0.965 | Destabilizing | 1.0 | D | 0.878 | deleterious | N | 0.492327558 | None | None | N |
| G/S | 0.1494 | likely_benign | 0.1611 | benign | -1.304 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.526661142 | None | None | N |
| G/T | 0.3252 | likely_benign | 0.3421 | ambiguous | -1.211 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/V | 0.555 | ambiguous | 0.6075 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.525284065 | None | None | N |
| G/W | 0.6731 | likely_pathogenic | 0.683 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/Y | 0.551 | ambiguous | 0.5462 | ambiguous | -0.866 | Destabilizing | 1.0 | D | 0.849 | 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.