Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28171 | 84736;84737;84738 | chr2:178561621;178561620;178561619 | chr2:179426348;179426347;179426346 |
| N2AB | 26530 | 79813;79814;79815 | chr2:178561621;178561620;178561619 | chr2:179426348;179426347;179426346 |
| N2A | 25603 | 77032;77033;77034 | chr2:178561621;178561620;178561619 | chr2:179426348;179426347;179426346 |
| N2B | 19106 | 57541;57542;57543 | chr2:178561621;178561620;178561619 | chr2:179426348;179426347;179426346 |
| Novex-1 | 19231 | 57916;57917;57918 | chr2:178561621;178561620;178561619 | chr2:179426348;179426347;179426346 |
| Novex-2 | 19298 | 58117;58118;58119 | chr2:178561621;178561620;178561619 | chr2:179426348;179426347;179426346 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.985 | N | 0.634 | 0.373 | 0.464612977235 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| M/T | rs1253820219  |
-2.189 | 0.994 | N | 0.753 | 0.531 | 0.818579587174 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/T | rs1253820219 |
-2.189 | 0.994 | N | 0.753 | 0.531 | 0.818579587174 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs1253820219 |
-2.189 | 0.994 | N | 0.753 | 0.531 | 0.818579587174 | gnomAD-4.0.0 | 2.56597E-06 | None | None | None | None | N | None | 1.69233E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39608E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.7862 | likely_pathogenic | 0.7682 | pathogenic | -2.235 | Highly Destabilizing | 0.989 | D | 0.675 | prob.neutral | None | None | None | None | N |
| M/C | 0.9077 | likely_pathogenic | 0.8894 | pathogenic | -2.599 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| M/D | 0.9969 | likely_pathogenic | 0.9963 | pathogenic | -2.203 | Highly Destabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
| M/E | 0.9699 | likely_pathogenic | 0.9657 | pathogenic | -1.945 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| M/F | 0.8368 | likely_pathogenic | 0.8075 | pathogenic | -0.657 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| M/G | 0.9604 | likely_pathogenic | 0.9557 | pathogenic | -2.752 | Highly Destabilizing | 0.995 | D | 0.729 | prob.delet. | None | None | None | None | N |
| M/H | 0.9707 | likely_pathogenic | 0.9679 | pathogenic | -2.469 | Highly Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| M/I | 0.7283 | likely_pathogenic | 0.6957 | pathogenic | -0.741 | Destabilizing | 0.985 | D | 0.634 | neutral | N | 0.44328761 | None | None | N |
| M/K | 0.9373 | likely_pathogenic | 0.9304 | pathogenic | -1.468 | Destabilizing | 0.994 | D | 0.759 | deleterious | N | 0.508337763 | None | None | N |
| M/L | 0.4504 | ambiguous | 0.435 | ambiguous | -0.741 | Destabilizing | 0.927 | D | 0.415 | neutral | N | 0.475490455 | None | None | N |
| M/N | 0.9641 | likely_pathogenic | 0.959 | pathogenic | -1.925 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| M/P | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -1.222 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| M/Q | 0.7559 | likely_pathogenic | 0.7494 | pathogenic | -1.545 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| M/R | 0.9398 | likely_pathogenic | 0.9284 | pathogenic | -1.68 | Destabilizing | 0.998 | D | 0.799 | deleterious | N | 0.508337763 | None | None | N |
| M/S | 0.858 | likely_pathogenic | 0.847 | pathogenic | -2.488 | Highly Destabilizing | 0.995 | D | 0.736 | prob.delet. | None | None | None | None | N |
| M/T | 0.8203 | likely_pathogenic | 0.8026 | pathogenic | -2.088 | Highly Destabilizing | 0.994 | D | 0.753 | deleterious | N | 0.484953589 | None | None | N |
| M/V | 0.2254 | likely_benign | 0.211 | benign | -1.222 | Destabilizing | 0.985 | D | 0.535 | neutral | N | 0.425104494 | None | None | N |
| M/W | 0.9936 | likely_pathogenic | 0.9919 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| M/Y | 0.9807 | likely_pathogenic | 0.9759 | pathogenic | -1.001 | Destabilizing | 0.999 | D | 0.796 | 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.