Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29388 | 88387;88388;88389 | chr2:178556992;178556991;178556990 | chr2:179421719;179421718;179421717 |
| N2AB | 27747 | 83464;83465;83466 | chr2:178556992;178556991;178556990 | chr2:179421719;179421718;179421717 |
| N2A | 26820 | 80683;80684;80685 | chr2:178556992;178556991;178556990 | chr2:179421719;179421718;179421717 |
| N2B | 20323 | 61192;61193;61194 | chr2:178556992;178556991;178556990 | chr2:179421719;179421718;179421717 |
| Novex-1 | 20448 | 61567;61568;61569 | chr2:178556992;178556991;178556990 | chr2:179421719;179421718;179421717 |
| Novex-2 | 20515 | 61768;61769;61770 | chr2:178556992;178556991;178556990 | chr2:179421719;179421718;179421717 |
| 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/I | rs775200192  |
-0.1 | 0.978 | N | 0.673 | 0.393 | 0.468504517574 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs775200192 |
-0.1 | 0.978 | N | 0.673 | 0.393 | 0.468504517574 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs775200192 |
-0.1 | 0.978 | N | 0.673 | 0.393 | 0.468504517574 | gnomAD-4.0.0 | 3.84337E-06 | None | None | None | None | N | None | 5.07408E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs775200192 |
-0.397 | 0.989 | N | 0.689 | 0.387 | 0.465294738428 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/N | rs775200192 |
-0.397 | 0.989 | N | 0.689 | 0.387 | 0.465294738428 | gnomAD-4.0.0 | 3.18261E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7787E-05 | None | 0 | 0 | 2.85801E-06 | 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 | 0.1468 | likely_benign | 0.1135 | benign | -0.211 | Destabilizing | 0.039 | N | 0.354 | neutral | N | 0.497700885 | None | None | N |
| T/C | 0.639 | likely_pathogenic | 0.5375 | ambiguous | -0.317 | Destabilizing | 0.998 | D | 0.774 | deleterious | None | None | None | None | N |
| T/D | 0.7268 | likely_pathogenic | 0.6321 | pathogenic | 0.313 | Stabilizing | 0.992 | D | 0.675 | prob.neutral | None | None | None | None | N |
| T/E | 0.6561 | likely_pathogenic | 0.554 | ambiguous | 0.231 | Stabilizing | 0.983 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/F | 0.6285 | likely_pathogenic | 0.471 | ambiguous | -0.845 | Destabilizing | 0.992 | D | 0.813 | deleterious | None | None | None | None | N |
| T/G | 0.3911 | ambiguous | 0.2996 | benign | -0.29 | Destabilizing | 0.895 | D | 0.628 | neutral | None | None | None | None | N |
| T/H | 0.503 | ambiguous | 0.4097 | ambiguous | -0.491 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| T/I | 0.4265 | ambiguous | 0.3289 | benign | -0.129 | Destabilizing | 0.978 | D | 0.673 | neutral | N | 0.52063646 | None | None | N |
| T/K | 0.5058 | ambiguous | 0.4061 | ambiguous | -0.195 | Destabilizing | 0.983 | D | 0.675 | prob.neutral | None | None | None | None | N |
| T/L | 0.2241 | likely_benign | 0.1628 | benign | -0.129 | Destabilizing | 0.895 | D | 0.575 | neutral | None | None | None | None | N |
| T/M | 0.1747 | likely_benign | 0.1313 | benign | -0.137 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| T/N | 0.2544 | likely_benign | 0.1964 | benign | -0.035 | Destabilizing | 0.989 | D | 0.689 | prob.neutral | N | 0.48577651 | None | None | N |
| T/P | 0.4479 | ambiguous | 0.3463 | ambiguous | -0.131 | Destabilizing | 0.989 | D | 0.734 | prob.delet. | N | 0.482263655 | None | None | N |
| T/Q | 0.3942 | ambiguous | 0.3183 | benign | -0.21 | Destabilizing | 0.992 | D | 0.774 | deleterious | None | None | None | None | N |
| T/R | 0.4014 | ambiguous | 0.3012 | benign | 0.039 | Stabilizing | 0.983 | D | 0.736 | prob.delet. | None | None | None | None | N |
| T/S | 0.164 | likely_benign | 0.1321 | benign | -0.231 | Destabilizing | 0.865 | D | 0.515 | neutral | N | 0.460873293 | None | None | N |
| T/V | 0.3126 | likely_benign | 0.2422 | benign | -0.131 | Destabilizing | 0.895 | D | 0.537 | neutral | None | None | None | None | N |
| T/W | 0.8685 | likely_pathogenic | 0.7787 | pathogenic | -0.916 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| T/Y | 0.6319 | likely_pathogenic | 0.5164 | ambiguous | -0.59 | Destabilizing | 0.997 | D | 0.829 | 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.