Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25679 | 77260;77261;77262 | chr2:178569097;178569096;178569095 | chr2:179433824;179433823;179433822 |
| N2AB | 24038 | 72337;72338;72339 | chr2:178569097;178569096;178569095 | chr2:179433824;179433823;179433822 |
| N2A | 23111 | 69556;69557;69558 | chr2:178569097;178569096;178569095 | chr2:179433824;179433823;179433822 |
| N2B | 16614 | 50065;50066;50067 | chr2:178569097;178569096;178569095 | chr2:179433824;179433823;179433822 |
| Novex-1 | 16739 | 50440;50441;50442 | chr2:178569097;178569096;178569095 | chr2:179433824;179433823;179433822 |
| Novex-2 | 16806 | 50641;50642;50643 | chr2:178569097;178569096;178569095 | chr2:179433824;179433823;179433822 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs770512378  |
-2.847 | 0.998 | D | 0.628 | 0.67 | 0.438806408302 | gnomAD-4.0.0 | 1.36873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.3197E-05 | 0 |
| N/H | rs770512378 |
-1.192 | 1.0 | D | 0.791 | 0.728 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.13E-05 | 0 |
| N/H | rs770512378 |
-1.192 | 1.0 | D | 0.791 | 0.728 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| N/H | rs770512378 |
-1.192 | 1.0 | D | 0.791 | 0.728 | None | gnomAD-4.0.0 | 1.73555E-05 | None | None | None | None | N | None | 0 | 1.66756E-05 | None | 0 | 0 | None | 0 | 4.93746E-04 | 1.69553E-05 | 2.19655E-05 | 3.20328E-05 |
| N/K | None | None | 1.0 | D | 0.777 | 0.585 | 0.214338557667 | gnomAD-4.0.0 | 6.84379E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99667E-07 | 0 | 0 |
| N/S | rs749255859 |
-1.303 | 0.999 | D | 0.611 | 0.622 | 0.399889258716 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/S | rs749255859 |
-1.303 | 0.999 | D | 0.611 | 0.622 | 0.399889258716 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43353E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.154 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| N/C | 0.9905 | likely_pathogenic | 0.9901 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| N/D | 0.9917 | likely_pathogenic | 0.9917 | pathogenic | -2.412 | Highly Destabilizing | 0.998 | D | 0.628 | neutral | D | 0.542111326 | None | None | N |
| N/E | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.211 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| N/F | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| N/G | 0.9951 | likely_pathogenic | 0.9948 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | N |
| N/H | 0.9947 | likely_pathogenic | 0.9951 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.559027494 | None | None | N |
| N/I | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.570637289 | None | None | N |
| N/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.569369841 | None | None | N |
| N/L | 0.9934 | likely_pathogenic | 0.9936 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| N/M | 0.996 | likely_pathogenic | 0.9963 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| N/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| N/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| N/R | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| N/S | 0.9687 | likely_pathogenic | 0.9719 | pathogenic | -1.326 | Destabilizing | 0.999 | D | 0.611 | neutral | D | 0.529741063 | None | None | N |
| N/T | 0.9875 | likely_pathogenic | 0.989 | pathogenic | -1.002 | Destabilizing | 0.999 | D | 0.748 | deleterious | N | 0.510747754 | None | None | N |
| N/V | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| N/Y | 0.9967 | likely_pathogenic | 0.9967 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.570383799 | 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.