Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19565 | 58918;58919;58920 | chr2:178593607;178593606;178593605 | chr2:179458334;179458333;179458332 |
| N2AB | 17924 | 53995;53996;53997 | chr2:178593607;178593606;178593605 | chr2:179458334;179458333;179458332 |
| N2A | 16997 | 51214;51215;51216 | chr2:178593607;178593606;178593605 | chr2:179458334;179458333;179458332 |
| N2B | 10500 | 31723;31724;31725 | chr2:178593607;178593606;178593605 | chr2:179458334;179458333;179458332 |
| Novex-1 | 10625 | 32098;32099;32100 | chr2:178593607;178593606;178593605 | chr2:179458334;179458333;179458332 |
| Novex-2 | 10692 | 32299;32300;32301 | chr2:178593607;178593606;178593605 | chr2:179458334;179458333;179458332 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | 1.0 | N | 0.793 | 0.445 | 0.546174653742 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| P/L | rs878880222  |
-0.724 | 1.0 | N | 0.812 | 0.485 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs878880222 |
-0.724 | 1.0 | N | 0.812 | 0.485 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs878880222 |
-0.724 | 1.0 | N | 0.812 | 0.485 | None | gnomAD-4.0.0 | 1.97306E-05 | None | None | None | None | I | None | 7.24323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1073 | likely_benign | 0.092 | benign | -1.727 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.477721433 | None | None | I |
| P/C | 0.6627 | likely_pathogenic | 0.582 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| P/D | 0.8642 | likely_pathogenic | 0.8127 | pathogenic | -1.828 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| P/E | 0.7234 | likely_pathogenic | 0.6642 | pathogenic | -1.825 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| P/F | 0.7046 | likely_pathogenic | 0.6488 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| P/G | 0.5009 | ambiguous | 0.4683 | ambiguous | -2.048 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| P/H | 0.5205 | ambiguous | 0.4597 | ambiguous | -1.681 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.5176037 | None | None | I |
| P/I | 0.6789 | likely_pathogenic | 0.5911 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| P/K | 0.8421 | likely_pathogenic | 0.7872 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| P/L | 0.5072 | ambiguous | 0.4726 | ambiguous | -0.925 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.50848544 | None | None | I |
| P/M | 0.6888 | likely_pathogenic | 0.606 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| P/N | 0.7792 | likely_pathogenic | 0.7119 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| P/Q | 0.589 | likely_pathogenic | 0.5175 | ambiguous | -1.42 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/R | 0.7184 | likely_pathogenic | 0.6378 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.527946048 | None | None | I |
| P/S | 0.2213 | likely_benign | 0.1904 | benign | -1.675 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.480038837 | None | None | I |
| P/T | 0.3031 | likely_benign | 0.2448 | benign | -1.581 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.516843232 | None | None | I |
| P/V | 0.5126 | ambiguous | 0.4221 | ambiguous | -1.161 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| P/W | 0.8616 | likely_pathogenic | 0.8255 | pathogenic | -1.587 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| P/Y | 0.6971 | likely_pathogenic | 0.6416 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.853 | deleterious | 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.