Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30893 | 92902;92903;92904 | chr2:178548949;178548948;178548947 | chr2:179413676;179413675;179413674 |
| N2AB | 29252 | 87979;87980;87981 | chr2:178548949;178548948;178548947 | chr2:179413676;179413675;179413674 |
| N2A | 28325 | 85198;85199;85200 | chr2:178548949;178548948;178548947 | chr2:179413676;179413675;179413674 |
| N2B | 21828 | 65707;65708;65709 | chr2:178548949;178548948;178548947 | chr2:179413676;179413675;179413674 |
| Novex-1 | 21953 | 66082;66083;66084 | chr2:178548949;178548948;178548947 | chr2:179413676;179413675;179413674 |
| Novex-2 | 22020 | 66283;66284;66285 | chr2:178548949;178548948;178548947 | chr2:179413676;179413675;179413674 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs370541682  |
-1.74 | 0.999 | N | 0.639 | 0.447 | None | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | N | None | 2.89304E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.81E-06 | 0 |
| K/E | rs370541682 |
-1.74 | 0.999 | N | 0.639 | 0.447 | None | gnomAD-3.1.2 | 9.85E-05 | None | None | None | None | N | None | 2.8945E-04 | 1.30941E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| K/E | rs370541682 |
-1.74 | 0.999 | N | 0.639 | 0.447 | None | gnomAD-4.0.0 | 2.23072E-05 | None | None | None | None | N | None | 3.60356E-04 | 6.66733E-05 | None | 0 | 0 | None | 0 | 0 | 2.54269E-06 | 0 | 3.20205E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.372 | ambiguous | 0.414 | ambiguous | -1.405 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| K/C | 0.4579 | ambiguous | 0.5117 | ambiguous | -1.467 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| K/D | 0.7358 | likely_pathogenic | 0.767 | pathogenic | -1.757 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| K/E | 0.2576 | likely_benign | 0.2842 | benign | -1.472 | Destabilizing | 0.999 | D | 0.639 | neutral | N | 0.436265637 | None | None | N |
| K/F | 0.6571 | likely_pathogenic | 0.7232 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| K/G | 0.5444 | ambiguous | 0.6069 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| K/H | 0.2127 | likely_benign | 0.2433 | benign | -1.933 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| K/I | 0.2706 | likely_benign | 0.2999 | benign | -0.049 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.468572843 | None | None | N |
| K/L | 0.2688 | likely_benign | 0.3073 | benign | -0.049 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| K/M | 0.1823 | likely_benign | 0.2098 | benign | -0.432 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| K/N | 0.4294 | ambiguous | 0.4724 | ambiguous | -1.744 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.429841097 | None | None | N |
| K/P | 0.9725 | likely_pathogenic | 0.9794 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| K/Q | 0.1122 | likely_benign | 0.1261 | benign | -1.401 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.419952177 | None | None | N |
| K/R | 0.0699 | likely_benign | 0.0747 | benign | -1.186 | Destabilizing | 0.999 | D | 0.615 | neutral | N | 0.442655679 | None | None | N |
| K/S | 0.3795 | ambiguous | 0.4302 | ambiguous | -2.27 | Highly Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| K/T | 0.158 | likely_benign | 0.1713 | benign | -1.736 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.440748737 | None | None | N |
| K/V | 0.2488 | likely_benign | 0.278 | benign | -0.479 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| K/W | 0.6409 | likely_pathogenic | 0.7199 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| K/Y | 0.4869 | ambiguous | 0.5443 | ambiguous | -0.269 | Destabilizing | 1.0 | D | 0.819 | 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.