Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5990 | 18193;18194;18195 | chr2:178730565;178730564;178730563 | chr2:179595292;179595291;179595290 |
| N2AB | 5673 | 17242;17243;17244 | chr2:178730565;178730564;178730563 | chr2:179595292;179595291;179595290 |
| N2A | 4746 | 14461;14462;14463 | chr2:178730565;178730564;178730563 | chr2:179595292;179595291;179595290 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs570762307  |
-1.532 | 0.977 | N | 0.594 | 0.335 | 0.264081493735 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/A | rs570762307 |
-1.532 | 0.977 | N | 0.594 | 0.335 | 0.264081493735 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs570762307 |
-1.532 | 0.977 | N | 0.594 | 0.335 | 0.264081493735 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/A | rs570762307 |
-1.532 | 0.977 | N | 0.594 | 0.335 | 0.264081493735 | gnomAD-4.0.0 | 5.57748E-06 | None | None | None | None | N | None | 1.33287E-05 | 1.66672E-05 | None | 0 | 0 | None | 0 | 0 | 4.23859E-06 | 2.19602E-05 | 0 |
| T/P | rs570762307 |
-0.792 | 0.999 | D | 0.757 | 0.363 | 0.553063759574 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs570762307 |
-0.792 | 0.999 | D | 0.757 | 0.363 | 0.553063759574 | gnomAD-4.0.0 | 6.84297E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51978E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1155 | likely_benign | 0.1167 | benign | -1.486 | Destabilizing | 0.977 | D | 0.594 | neutral | N | 0.498020372 | None | None | N |
| T/C | 0.4632 | ambiguous | 0.4672 | ambiguous | -1.001 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| T/D | 0.6758 | likely_pathogenic | 0.6856 | pathogenic | -1.342 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/E | 0.4902 | ambiguous | 0.5132 | ambiguous | -1.124 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| T/F | 0.2494 | likely_benign | 0.2388 | benign | -1.257 | Destabilizing | 0.995 | D | 0.811 | deleterious | None | None | None | None | N |
| T/G | 0.4192 | ambiguous | 0.4153 | ambiguous | -1.877 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| T/H | 0.2517 | likely_benign | 0.2504 | benign | -1.771 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| T/I | 0.1329 | likely_benign | 0.1371 | benign | -0.445 | Destabilizing | 0.235 | N | 0.461 | neutral | N | 0.481219563 | None | None | N |
| T/K | 0.2203 | likely_benign | 0.2309 | benign | -0.203 | Destabilizing | 0.998 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/L | 0.1214 | likely_benign | 0.1131 | benign | -0.445 | Destabilizing | 0.966 | D | 0.639 | neutral | None | None | None | None | N |
| T/M | 0.102 | likely_benign | 0.0968 | benign | -0.498 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| T/N | 0.2249 | likely_benign | 0.2244 | benign | -0.887 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | N | 0.508251041 | None | None | N |
| T/P | 0.8867 | likely_pathogenic | 0.8809 | pathogenic | -0.766 | Destabilizing | 0.999 | D | 0.757 | deleterious | D | 0.531381726 | None | None | N |
| T/Q | 0.2637 | likely_benign | 0.2694 | benign | -0.713 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| T/R | 0.1522 | likely_benign | 0.1624 | benign | -0.412 | Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | None | None | N |
| T/S | 0.1301 | likely_benign | 0.1261 | benign | -1.239 | Destabilizing | 0.989 | D | 0.586 | neutral | N | 0.511968543 | None | None | N |
| T/V | 0.1194 | likely_benign | 0.1197 | benign | -0.766 | Destabilizing | 0.921 | D | 0.585 | neutral | None | None | None | None | N |
| T/W | 0.6519 | likely_pathogenic | 0.6336 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| T/Y | 0.2908 | likely_benign | 0.2913 | benign | -0.914 | Destabilizing | 0.999 | D | 0.825 | 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.