Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26041 | 78346;78347;78348 | chr2:178568011;178568010;178568009 | chr2:179432738;179432737;179432736 |
| N2AB | 24400 | 73423;73424;73425 | chr2:178568011;178568010;178568009 | chr2:179432738;179432737;179432736 |
| N2A | 23473 | 70642;70643;70644 | chr2:178568011;178568010;178568009 | chr2:179432738;179432737;179432736 |
| N2B | 16976 | 51151;51152;51153 | chr2:178568011;178568010;178568009 | chr2:179432738;179432737;179432736 |
| Novex-1 | 17101 | 51526;51527;51528 | chr2:178568011;178568010;178568009 | chr2:179432738;179432737;179432736 |
| Novex-2 | 17168 | 51727;51728;51729 | chr2:178568011;178568010;178568009 | chr2:179432738;179432737;179432736 |
| 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/K | rs556395967  |
-0.231 | 1.0 | N | 0.72 | 0.436 | 0.225215365344 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11907E-04 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs556395967 |
-0.231 | 1.0 | N | 0.72 | 0.436 | 0.225215365344 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93573E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs556395967 |
-0.231 | 1.0 | N | 0.72 | 0.436 | 0.225215365344 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| N/K | rs556395967 |
-0.231 | 1.0 | N | 0.72 | 0.436 | 0.225215365344 | gnomAD-4.0.0 | 3.09917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11667E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.8286 | likely_pathogenic | 0.8645 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| N/C | 0.5571 | ambiguous | 0.6282 | pathogenic | -0.079 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/D | 0.8365 | likely_pathogenic | 0.8637 | pathogenic | -0.844 | Destabilizing | 0.999 | D | 0.608 | neutral | N | 0.491487729 | None | None | N |
| N/E | 0.9786 | likely_pathogenic | 0.9856 | pathogenic | -0.641 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| N/F | 0.9905 | likely_pathogenic | 0.9935 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/G | 0.7138 | likely_pathogenic | 0.7649 | pathogenic | -1.372 | Destabilizing | 0.999 | D | 0.562 | neutral | None | None | None | None | N |
| N/H | 0.7447 | likely_pathogenic | 0.8156 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.498351037 | None | None | N |
| N/I | 0.9369 | likely_pathogenic | 0.9538 | pathogenic | 0.164 | Stabilizing | 1.0 | D | 0.778 | deleterious | N | 0.49058913 | None | None | N |
| N/K | 0.9895 | likely_pathogenic | 0.9929 | pathogenic | -0.12 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.49123424 | None | None | N |
| N/L | 0.9125 | likely_pathogenic | 0.9274 | pathogenic | 0.164 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| N/M | 0.9203 | likely_pathogenic | 0.9357 | pathogenic | 0.448 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| N/P | 0.9763 | likely_pathogenic | 0.9805 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| N/Q | 0.9537 | likely_pathogenic | 0.9676 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| N/R | 0.9825 | likely_pathogenic | 0.9872 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| N/S | 0.1267 | likely_benign | 0.141 | benign | -1.058 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.510456751 | None | None | N |
| N/T | 0.3735 | ambiguous | 0.373 | ambiguous | -0.635 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | N | 0.513977059 | None | None | N |
| N/V | 0.8945 | likely_pathogenic | 0.9166 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/W | 0.9955 | likely_pathogenic | 0.9973 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| N/Y | 0.9351 | likely_pathogenic | 0.9554 | pathogenic | 0.014 | Stabilizing | 1.0 | D | 0.764 | deleterious | N | 0.500757347 | 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.