Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4958 | 15097;15098;15099 | chr2:178735574;178735573;178735572 | chr2:179600301;179600300;179600299 |
| N2AB | 4641 | 14146;14147;14148 | chr2:178735574;178735573;178735572 | chr2:179600301;179600300;179600299 |
| N2A | 3714 | 11365;11366;11367 | chr2:178735574;178735573;178735572 | chr2:179600301;179600300;179600299 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs530572005  |
-1.526 | 1.0 | D | 0.873 | 0.883 | 0.853060321364 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| Y/C | rs530572005 |
-1.526 | 1.0 | D | 0.873 | 0.883 | 0.853060321364 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| Y/C | rs530572005 |
-1.526 | 1.0 | D | 0.873 | 0.883 | 0.853060321364 | gnomAD-4.0.0 | 4.09261E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.42577E-05 | 1.10064E-05 | 1.60323E-05 |
| Y/H | None | None | 1.0 | D | 0.785 | 0.868 | 0.734259233557 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9483 | likely_pathogenic | 0.9754 | pathogenic | -2.267 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/C | 0.5836 | likely_pathogenic | 0.7569 | pathogenic | -1.935 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.830460077 | None | None | N |
| Y/D | 0.9916 | likely_pathogenic | 0.9951 | pathogenic | -2.581 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.830460076 | None | None | N |
| Y/E | 0.9949 | likely_pathogenic | 0.9975 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| Y/F | 0.0984 | likely_benign | 0.121 | benign | -0.857 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | D | 0.650445156 | None | None | N |
| Y/G | 0.964 | likely_pathogenic | 0.9812 | pathogenic | -2.722 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/H | 0.8813 | likely_pathogenic | 0.9336 | pathogenic | -2.059 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.831105429 | None | None | N |
| Y/I | 0.6348 | likely_pathogenic | 0.7585 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/K | 0.9948 | likely_pathogenic | 0.9973 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/L | 0.6322 | likely_pathogenic | 0.7396 | pathogenic | -0.769 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| Y/M | 0.8398 | likely_pathogenic | 0.9123 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| Y/N | 0.9463 | likely_pathogenic | 0.9693 | pathogenic | -2.703 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.830460076 | None | None | N |
| Y/P | 0.9945 | likely_pathogenic | 0.9968 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| Y/Q | 0.9897 | likely_pathogenic | 0.9955 | pathogenic | -2.256 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/R | 0.977 | likely_pathogenic | 0.9875 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/S | 0.9227 | likely_pathogenic | 0.9574 | pathogenic | -3.122 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.830460076 | None | None | N |
| Y/T | 0.9494 | likely_pathogenic | 0.9761 | pathogenic | -2.726 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/V | 0.534 | ambiguous | 0.6563 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| Y/W | 0.5318 | ambiguous | 0.6224 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.778 | 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.