Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34329 | 103210;103211;103212 | chr2:178533630;178533629;178533628 | chr2:179398357;179398356;179398355 |
| N2AB | 32688 | 98287;98288;98289 | chr2:178533630;178533629;178533628 | chr2:179398357;179398356;179398355 |
| N2A | 31761 | 95506;95507;95508 | chr2:178533630;178533629;178533628 | chr2:179398357;179398356;179398355 |
| N2B | 25264 | 76015;76016;76017 | chr2:178533630;178533629;178533628 | chr2:179398357;179398356;179398355 |
| Novex-1 | 25389 | 76390;76391;76392 | chr2:178533630;178533629;178533628 | chr2:179398357;179398356;179398355 |
| Novex-2 | 25456 | 76591;76592;76593 | chr2:178533630;178533629;178533628 | chr2:179398357;179398356;179398355 |
| 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/D | None | None | 0.991 | N | 0.851 | 0.407 | 0.319686207203 | gnomAD-4.0.0 | 6.84159E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99407E-07 | 0 | 0 |
| A/T | rs749925915  |
-1.219 | 0.998 | N | 0.772 | 0.27 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| A/T | rs749925915 |
-1.219 | 0.998 | N | 0.772 | 0.27 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30924E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs749925915 |
-1.219 | 0.998 | N | 0.772 | 0.27 | None | gnomAD-4.0.0 | 1.23929E-05 | None | None | None | None | N | None | 0 | 3.33378E-05 | None | 0 | 0 | None | 0 | 0 | 7.62795E-06 | 5.48932E-05 | 6.40348E-05 |
| A/V | rs1472884048 |
-0.384 | 0.939 | N | 0.755 | 0.291 | 0.272205846399 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1472884048 |
-0.384 | 0.939 | N | 0.755 | 0.291 | 0.272205846399 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1472884048 |
-0.384 | 0.939 | N | 0.755 | 0.291 | 0.272205846399 | gnomAD-4.0.0 | 5.57687E-06 | None | None | None | None | N | None | 5.3396E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39018E-06 | 0 | 1.60092E-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 | 0.673 | likely_pathogenic | 0.6952 | pathogenic | -1.284 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| A/D | 0.6316 | likely_pathogenic | 0.5934 | pathogenic | -1.983 | Destabilizing | 0.991 | D | 0.851 | deleterious | N | 0.489173749 | None | None | N |
| A/E | 0.6967 | likely_pathogenic | 0.6724 | pathogenic | -1.917 | Destabilizing | 0.993 | D | 0.802 | deleterious | None | None | None | None | N |
| A/F | 0.872 | likely_pathogenic | 0.8783 | pathogenic | -1.1 | Destabilizing | 0.973 | D | 0.854 | deleterious | None | None | None | None | N |
| A/G | 0.1741 | likely_benign | 0.1646 | benign | -1.514 | Destabilizing | 0.046 | N | 0.472 | neutral | N | 0.310520889 | None | None | N |
| A/H | 0.8936 | likely_pathogenic | 0.8959 | pathogenic | -1.732 | Destabilizing | 0.996 | D | 0.851 | deleterious | None | None | None | None | N |
| A/I | 0.8633 | likely_pathogenic | 0.8545 | pathogenic | -0.286 | Destabilizing | 0.986 | D | 0.819 | deleterious | None | None | None | None | N |
| A/K | 0.8949 | likely_pathogenic | 0.8972 | pathogenic | -1.29 | Destabilizing | 0.993 | D | 0.812 | deleterious | None | None | None | None | N |
| A/L | 0.688 | likely_pathogenic | 0.6894 | pathogenic | -0.286 | Destabilizing | 0.91 | D | 0.804 | deleterious | None | None | None | None | N |
| A/M | 0.649 | likely_pathogenic | 0.6395 | pathogenic | -0.339 | Destabilizing | 0.999 | D | 0.796 | deleterious | None | None | None | None | N |
| A/N | 0.7082 | likely_pathogenic | 0.6882 | pathogenic | -1.299 | Destabilizing | 0.993 | D | 0.853 | deleterious | None | None | None | None | N |
| A/P | 0.9897 | likely_pathogenic | 0.9901 | pathogenic | -0.535 | Destabilizing | 0.999 | D | 0.819 | deleterious | N | 0.471753729 | None | None | N |
| A/Q | 0.7672 | likely_pathogenic | 0.7563 | pathogenic | -1.344 | Destabilizing | 0.998 | D | 0.808 | deleterious | None | None | None | None | N |
| A/R | 0.8015 | likely_pathogenic | 0.8018 | pathogenic | -1.091 | Destabilizing | 0.993 | D | 0.821 | deleterious | None | None | None | None | N |
| A/S | 0.1293 | likely_benign | 0.1213 | benign | -1.709 | Destabilizing | 0.975 | D | 0.741 | deleterious | N | 0.448280649 | None | None | N |
| A/T | 0.2385 | likely_benign | 0.2193 | benign | -1.537 | Destabilizing | 0.998 | D | 0.772 | deleterious | N | 0.448787628 | None | None | N |
| A/V | 0.574 | likely_pathogenic | 0.5681 | pathogenic | -0.535 | Destabilizing | 0.939 | D | 0.755 | deleterious | N | 0.472007218 | None | None | N |
| A/W | 0.9817 | likely_pathogenic | 0.983 | pathogenic | -1.614 | Destabilizing | 0.998 | D | 0.837 | deleterious | None | None | None | None | N |
| A/Y | 0.927 | likely_pathogenic | 0.9276 | pathogenic | -1.143 | Destabilizing | 0.128 | N | 0.709 | prob.delet. | 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.