Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33473 | 100642;100643;100644 | chr2:178536330;178536329;178536328 | chr2:179401057;179401056;179401055 |
| N2AB | 31832 | 95719;95720;95721 | chr2:178536330;178536329;178536328 | chr2:179401057;179401056;179401055 |
| N2A | 30905 | 92938;92939;92940 | chr2:178536330;178536329;178536328 | chr2:179401057;179401056;179401055 |
| N2B | 24408 | 73447;73448;73449 | chr2:178536330;178536329;178536328 | chr2:179401057;179401056;179401055 |
| Novex-1 | 24533 | 73822;73823;73824 | chr2:178536330;178536329;178536328 | chr2:179401057;179401056;179401055 |
| Novex-2 | 24600 | 74023;74024;74025 | chr2:178536330;178536329;178536328 | chr2:179401057;179401056;179401055 |
| 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 | rs1387409572  |
0.157 | 1.0 | N | 0.681 | 0.426 | 0.28722502521 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/A | rs1387409572 |
0.157 | 1.0 | N | 0.681 | 0.426 | 0.28722502521 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-05 | 0 |
| G/S | rs397517783 |
-0.14 | 1.0 | N | 0.781 | 0.479 | None | gnomAD-2.1.1 | 4.64E-05 | None | None | None | None | I | None | 4.14E-05 | 0 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 8.59E-05 | 0 |
| G/S | rs397517783 |
-0.14 | 1.0 | N | 0.781 | 0.479 | None | gnomAD-3.1.2 | 1.11707E-04 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 2.20491E-04 | 0 | 0 |
| G/S | rs397517783 |
-0.14 | 1.0 | N | 0.781 | 0.479 | None | gnomAD-4.0.0 | 3.78037E-05 | None | None | None | None | I | None | 1.3349E-05 | 0 | None | 0 | 2.22836E-05 | None | 0 | 4.93097E-04 | 4.15332E-05 | 3.29402E-05 | 6.40533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.195 | likely_benign | 0.2381 | benign | -0.332 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.372198303 | None | None | I |
| G/C | 0.4986 | ambiguous | 0.607 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.447698926 | None | None | I |
| G/D | 0.9135 | likely_pathogenic | 0.9445 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.478731122 | None | None | I |
| G/E | 0.879 | likely_pathogenic | 0.9233 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/F | 0.8813 | likely_pathogenic | 0.9443 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/H | 0.9323 | likely_pathogenic | 0.9648 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/I | 0.698 | likely_pathogenic | 0.8213 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/K | 0.9692 | likely_pathogenic | 0.981 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/L | 0.8381 | likely_pathogenic | 0.8879 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/M | 0.8789 | likely_pathogenic | 0.9294 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/N | 0.8892 | likely_pathogenic | 0.9275 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/P | 0.9817 | likely_pathogenic | 0.9864 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/Q | 0.9147 | likely_pathogenic | 0.9447 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/R | 0.9057 | likely_pathogenic | 0.9371 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.489852193 | None | None | I |
| G/S | 0.3244 | likely_benign | 0.3986 | ambiguous | -0.604 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.459049283 | None | None | I |
| G/T | 0.6383 | likely_pathogenic | 0.758 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/V | 0.5381 | ambiguous | 0.6685 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.84 | deleterious | N | 0.386455679 | None | None | I |
| G/W | 0.8357 | likely_pathogenic | 0.9167 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/Y | 0.8605 | likely_pathogenic | 0.936 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.811 | 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.