Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29975 | 90148;90149;90150 | chr2:178552977;178552976;178552975 | chr2:179417704;179417703;179417702 |
| N2AB | 28334 | 85225;85226;85227 | chr2:178552977;178552976;178552975 | chr2:179417704;179417703;179417702 |
| N2A | 27407 | 82444;82445;82446 | chr2:178552977;178552976;178552975 | chr2:179417704;179417703;179417702 |
| N2B | 20910 | 62953;62954;62955 | chr2:178552977;178552976;178552975 | chr2:179417704;179417703;179417702 |
| Novex-1 | 21035 | 63328;63329;63330 | chr2:178552977;178552976;178552975 | chr2:179417704;179417703;179417702 |
| Novex-2 | 21102 | 63529;63530;63531 | chr2:178552977;178552976;178552975 | chr2:179417704;179417703;179417702 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs117097948  |
-0.323 | 0.994 | N | 0.549 | 0.278 | None | gnomAD-2.1.1 | 7.53E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.14403E-04 | None | 3.27011E-04 | None | 0 | 0 | 1.41163E-04 |
| A/V | rs117097948 |
-0.323 | 0.994 | N | 0.549 | 0.278 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.7101E-04 | None | 0 | 0 | 0 | 8.29187E-04 | 0 |
| A/V | rs117097948 |
-0.323 | 0.994 | N | 0.549 | 0.278 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 1E-03 | None |
| A/V | rs117097948 |
-0.323 | 0.994 | N | 0.549 | 0.278 | None | gnomAD-4.0.0 | 3.22485E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.67785E-04 | None | 0 | 1.65125E-04 | 2.54283E-06 | 3.73323E-04 | 3.20184E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6766 | likely_pathogenic | 0.6812 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| A/D | 0.8131 | likely_pathogenic | 0.7915 | pathogenic | -1.074 | Destabilizing | 0.997 | D | 0.618 | neutral | N | 0.519961669 | None | None | N |
| A/E | 0.7469 | likely_pathogenic | 0.7118 | pathogenic | -1.051 | Destabilizing | 0.992 | D | 0.572 | neutral | None | None | None | None | N |
| A/F | 0.7013 | likely_pathogenic | 0.675 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/G | 0.2661 | likely_benign | 0.2576 | benign | -1.134 | Destabilizing | 0.973 | D | 0.525 | neutral | N | 0.521001819 | None | None | N |
| A/H | 0.8375 | likely_pathogenic | 0.825 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| A/I | 0.4183 | ambiguous | 0.3808 | ambiguous | -0.095 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| A/K | 0.8844 | likely_pathogenic | 0.8591 | pathogenic | -1.003 | Destabilizing | 0.992 | D | 0.58 | neutral | None | None | None | None | N |
| A/L | 0.4654 | ambiguous | 0.4312 | ambiguous | -0.095 | Destabilizing | 0.996 | D | 0.551 | neutral | None | None | None | None | N |
| A/M | 0.4347 | ambiguous | 0.4065 | ambiguous | -0.023 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| A/N | 0.6071 | likely_pathogenic | 0.5922 | pathogenic | -0.784 | Destabilizing | 0.998 | D | 0.645 | neutral | None | None | None | None | N |
| A/P | 0.6737 | likely_pathogenic | 0.6309 | pathogenic | -0.294 | Destabilizing | 0.998 | D | 0.663 | neutral | N | 0.504128212 | None | None | N |
| A/Q | 0.7463 | likely_pathogenic | 0.7176 | pathogenic | -0.856 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| A/R | 0.8463 | likely_pathogenic | 0.8115 | pathogenic | -0.779 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| A/S | 0.1212 | likely_benign | 0.1273 | benign | -1.18 | Destabilizing | 0.592 | D | 0.255 | neutral | N | 0.434132196 | None | None | N |
| A/T | 0.1631 | likely_benign | 0.1451 | benign | -1.057 | Destabilizing | 0.978 | D | 0.535 | neutral | N | 0.460721364 | None | None | N |
| A/V | 0.2142 | likely_benign | 0.1893 | benign | -0.294 | Destabilizing | 0.994 | D | 0.549 | neutral | N | 0.49970104 | None | None | N |
| A/W | 0.9527 | likely_pathogenic | 0.9462 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| A/Y | 0.8167 | likely_pathogenic | 0.8081 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | 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.