Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20326 | 61201;61202;61203 | chr2:178590749;178590748;178590747 | chr2:179455476;179455475;179455474 |
| N2AB | 18685 | 56278;56279;56280 | chr2:178590749;178590748;178590747 | chr2:179455476;179455475;179455474 |
| N2A | 17758 | 53497;53498;53499 | chr2:178590749;178590748;178590747 | chr2:179455476;179455475;179455474 |
| N2B | 11261 | 34006;34007;34008 | chr2:178590749;178590748;178590747 | chr2:179455476;179455475;179455474 |
| Novex-1 | 11386 | 34381;34382;34383 | chr2:178590749;178590748;178590747 | chr2:179455476;179455475;179455474 |
| Novex-2 | 11453 | 34582;34583;34584 | chr2:178590749;178590748;178590747 | chr2:179455476;179455475;179455474 |
| 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/T | rs370995867  |
-0.682 | 0.001 | N | 0.107 | 0.088 | None | gnomAD-2.1.1 | 1.21494E-04 | None | None | None | None | I | None | 1.29349E-04 | 5.54324E-04 | None | 0 | 0 | None | 0 | None | 0 | 6.25E-05 | 3.35458E-04 |
| A/T | rs370995867 |
-0.682 | 0.001 | N | 0.107 | 0.088 | None | gnomAD-3.1.2 | 7.24E-05 | None | None | None | None | I | None | 0 | 1.96747E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.02996E-04 | 0 | 4.78011E-04 |
| A/T | rs370995867 |
-0.682 | 0.001 | N | 0.107 | 0.088 | None | gnomAD-4.0.0 | 5.90111E-05 | None | None | None | None | I | None | 1.33676E-05 | 4.68274E-04 | None | 0 | 0 | None | 0 | 0 | 5.01153E-05 | 0 | 1.12352E-04 |
| A/V | rs878985429 |
-0.065 | None | N | 0.107 | 0.13 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs878985429 |
-0.065 | None | N | 0.107 | 0.13 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs878985429 |
-0.065 | None | N | 0.107 | 0.13 | None | gnomAD-4.0.0 | 3.8596E-06 | None | None | None | None | I | None | 5.08113E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.275 | likely_benign | 0.2588 | benign | -0.827 | Destabilizing | 0.356 | N | 0.311 | neutral | None | None | None | None | I |
| A/D | 0.2304 | likely_benign | 0.2131 | benign | -0.604 | Destabilizing | 0.055 | N | 0.307 | neutral | N | 0.456067693 | None | None | I |
| A/E | 0.2065 | likely_benign | 0.1757 | benign | -0.674 | Destabilizing | 0.016 | N | 0.253 | neutral | None | None | None | None | I |
| A/F | 0.2398 | likely_benign | 0.2345 | benign | -0.739 | Destabilizing | 0.214 | N | 0.399 | neutral | None | None | None | None | I |
| A/G | 0.1014 | likely_benign | 0.0976 | benign | -0.65 | Destabilizing | 0.012 | N | 0.199 | neutral | N | 0.46341774 | None | None | I |
| A/H | 0.2902 | likely_benign | 0.2486 | benign | -0.562 | Destabilizing | 0.001 | N | 0.221 | neutral | None | None | None | None | I |
| A/I | 0.133 | likely_benign | 0.1365 | benign | -0.22 | Destabilizing | 0.006 | N | 0.27 | neutral | None | None | None | None | I |
| A/K | 0.2681 | likely_benign | 0.2025 | benign | -0.888 | Destabilizing | None | N | 0.143 | neutral | None | None | None | None | I |
| A/L | 0.0987 | likely_benign | 0.0862 | benign | -0.22 | Destabilizing | None | N | 0.135 | neutral | None | None | None | None | I |
| A/M | 0.1313 | likely_benign | 0.1237 | benign | -0.442 | Destabilizing | 0.214 | N | 0.308 | neutral | None | None | None | None | I |
| A/N | 0.1501 | likely_benign | 0.1453 | benign | -0.675 | Destabilizing | 0.038 | N | 0.304 | neutral | None | None | None | None | I |
| A/P | 0.0964 | likely_benign | 0.0764 | benign | -0.271 | Destabilizing | 0.232 | N | 0.355 | neutral | N | 0.40814046 | None | None | I |
| A/Q | 0.2162 | likely_benign | 0.1735 | benign | -0.835 | Destabilizing | 0.072 | N | 0.36 | neutral | None | None | None | None | I |
| A/R | 0.2657 | likely_benign | 0.2041 | benign | -0.479 | Destabilizing | None | N | 0.191 | neutral | None | None | None | None | I |
| A/S | 0.0805 | likely_benign | 0.0775 | benign | -0.95 | Destabilizing | 0.002 | N | 0.117 | neutral | N | 0.418221381 | None | None | I |
| A/T | 0.0661 | likely_benign | 0.0654 | benign | -0.921 | Destabilizing | 0.001 | N | 0.107 | neutral | N | 0.434494768 | None | None | I |
| A/V | 0.0834 | likely_benign | 0.0831 | benign | -0.271 | Destabilizing | None | N | 0.107 | neutral | N | 0.47628825 | None | None | I |
| A/W | 0.5133 | ambiguous | 0.4797 | ambiguous | -0.982 | Destabilizing | 0.864 | D | 0.333 | neutral | None | None | None | None | I |
| A/Y | 0.2824 | likely_benign | 0.2856 | benign | -0.597 | Destabilizing | 0.12 | N | 0.396 | neutral | 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.