Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22813 | 68662;68663;68664 | chr2:178578078;178578077;178578076 | chr2:179442805;179442804;179442803 |
| N2AB | 21172 | 63739;63740;63741 | chr2:178578078;178578077;178578076 | chr2:179442805;179442804;179442803 |
| N2A | 20245 | 60958;60959;60960 | chr2:178578078;178578077;178578076 | chr2:179442805;179442804;179442803 |
| N2B | 13748 | 41467;41468;41469 | chr2:178578078;178578077;178578076 | chr2:179442805;179442804;179442803 |
| Novex-1 | 13873 | 41842;41843;41844 | chr2:178578078;178578077;178578076 | chr2:179442805;179442804;179442803 |
| Novex-2 | 13940 | 42043;42044;42045 | chr2:178578078;178578077;178578076 | chr2:179442805;179442804;179442803 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | None | -0.689 | 0.999 | N | 0.627 | 0.358 | None | gnomAD-2.1.1 | 3.04134E-04 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 7.26041E-03 | 0 | None | 0 | None | 0 | 4.7E-05 | 2.81849E-04 |
| E/K | None | -0.689 | 0.999 | N | 0.627 | 0.358 | None | gnomAD-3.1.2 | 1.77552E-04 | None | None | None | None | N | None | 0 | 1.31148E-04 | 0 | 6.05536E-03 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| E/K | None | -0.689 | 0.999 | N | 0.627 | 0.358 | None | gnomAD-4.0.0 | 1.65513E-04 | None | None | None | None | N | None | 1.33554E-05 | 5.00283E-05 | None | 6.86228E-03 | 0 | None | 0 | 0 | 2.79782E-05 | 0 | 4.32429E-04 |
| E/Q | rs200797552  |
None | 1.0 | N | 0.653 | 0.335 | 0.347879110917 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93424E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs200797552 |
None | 1.0 | N | 0.653 | 0.335 | 0.347879110917 | gnomAD-4.0.0 | 1.23971E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.46887E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3221 | likely_benign | 0.288 | benign | -0.893 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | N | 0.515499999 | None | None | N |
| E/C | 0.9217 | likely_pathogenic | 0.914 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/D | 0.66 | likely_pathogenic | 0.5876 | pathogenic | -1.442 | Destabilizing | 0.999 | D | 0.507 | neutral | N | 0.476181404 | None | None | N |
| E/F | 0.9385 | likely_pathogenic | 0.9211 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| E/G | 0.582 | likely_pathogenic | 0.5142 | ambiguous | -1.327 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.488311405 | None | None | N |
| E/H | 0.8783 | likely_pathogenic | 0.8566 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| E/I | 0.6067 | likely_pathogenic | 0.5623 | ambiguous | 0.319 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| E/K | 0.7275 | likely_pathogenic | 0.6583 | pathogenic | -1.136 | Destabilizing | 0.999 | D | 0.627 | neutral | N | 0.515998644 | None | None | N |
| E/L | 0.6952 | likely_pathogenic | 0.6549 | pathogenic | 0.319 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| E/M | 0.6863 | likely_pathogenic | 0.6343 | pathogenic | 0.87 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| E/N | 0.8061 | likely_pathogenic | 0.7594 | pathogenic | -1.566 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| E/P | 0.9023 | likely_pathogenic | 0.8964 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/Q | 0.3075 | likely_benign | 0.2758 | benign | -1.332 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.473041079 | None | None | N |
| E/R | 0.7669 | likely_pathogenic | 0.73 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| E/S | 0.5187 | ambiguous | 0.4666 | ambiguous | -2.022 | Highly Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| E/T | 0.5266 | ambiguous | 0.4692 | ambiguous | -1.652 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/V | 0.4158 | ambiguous | 0.373 | ambiguous | -0.064 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.521041891 | None | None | N |
| E/W | 0.9813 | likely_pathogenic | 0.979 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| E/Y | 0.9139 | likely_pathogenic | 0.894 | pathogenic | -0.025 | Destabilizing | 1.0 | D | 0.787 | 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.