Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24957 | 75094;75095;75096 | chr2:178571263;178571262;178571261 | chr2:179435990;179435989;179435988 |
| N2AB | 23316 | 70171;70172;70173 | chr2:178571263;178571262;178571261 | chr2:179435990;179435989;179435988 |
| N2A | 22389 | 67390;67391;67392 | chr2:178571263;178571262;178571261 | chr2:179435990;179435989;179435988 |
| N2B | 15892 | 47899;47900;47901 | chr2:178571263;178571262;178571261 | chr2:179435990;179435989;179435988 |
| Novex-1 | 16017 | 48274;48275;48276 | chr2:178571263;178571262;178571261 | chr2:179435990;179435989;179435988 |
| Novex-2 | 16084 | 48475;48476;48477 | chr2:178571263;178571262;178571261 | chr2:179435990;179435989;179435988 |
| 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/R | rs760043791  |
-0.37 | 0.142 | N | 0.351 | 0.171 | 0.252162846088 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs760043791 |
-0.37 | 0.142 | N | 0.351 | 0.171 | 0.252162846088 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs760043791 |
-0.37 | 0.142 | N | 0.351 | 0.171 | 0.252162846088 | gnomAD-4.0.0 | 3.84465E-06 | None | None | None | None | N | None | 5.07597E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs760043791 |
None | 0.988 | N | 0.731 | 0.408 | 0.321951552304 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs760043791 |
None | 0.988 | N | 0.731 | 0.408 | 0.321951552304 | gnomAD-4.0.0 | 6.57523E-06 | None | None | None | None | N | None | 0 | 6.56082E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.739 | likely_pathogenic | 0.7374 | pathogenic | -0.352 | Destabilizing | 0.968 | D | 0.59 | neutral | None | None | None | None | N |
| K/C | 0.8047 | likely_pathogenic | 0.8095 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/D | 0.9507 | likely_pathogenic | 0.9474 | pathogenic | -0.125 | Destabilizing | 0.995 | D | 0.778 | deleterious | None | None | None | None | N |
| K/E | 0.7066 | likely_pathogenic | 0.6919 | pathogenic | -0.029 | Destabilizing | 0.958 | D | 0.495 | neutral | N | 0.500447614 | None | None | N |
| K/F | 0.9429 | likely_pathogenic | 0.944 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| K/G | 0.8648 | likely_pathogenic | 0.8635 | pathogenic | -0.715 | Destabilizing | 0.991 | D | 0.68 | prob.neutral | None | None | None | None | N |
| K/H | 0.5322 | ambiguous | 0.5287 | ambiguous | -1.107 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| K/I | 0.6448 | likely_pathogenic | 0.6614 | pathogenic | 0.584 | Stabilizing | 0.995 | D | 0.78 | deleterious | None | None | None | None | N |
| K/L | 0.591 | likely_pathogenic | 0.6122 | pathogenic | 0.584 | Stabilizing | 0.991 | D | 0.68 | prob.neutral | None | None | None | None | N |
| K/M | 0.4938 | ambiguous | 0.5046 | ambiguous | 0.41 | Stabilizing | 0.999 | D | 0.767 | deleterious | N | 0.466279903 | None | None | N |
| K/N | 0.853 | likely_pathogenic | 0.8548 | pathogenic | -0.3 | Destabilizing | 0.988 | D | 0.685 | prob.neutral | N | 0.474140262 | None | None | N |
| K/P | 0.7349 | likely_pathogenic | 0.7258 | pathogenic | 0.303 | Stabilizing | 0.998 | D | 0.785 | deleterious | None | None | None | None | N |
| K/Q | 0.2949 | likely_benign | 0.2876 | benign | -0.346 | Destabilizing | 0.988 | D | 0.663 | neutral | N | 0.464251987 | None | None | N |
| K/R | 0.0829 | likely_benign | 0.0842 | benign | -0.657 | Destabilizing | 0.142 | N | 0.351 | neutral | N | 0.501490551 | None | None | N |
| K/S | 0.8284 | likely_pathogenic | 0.8278 | pathogenic | -0.845 | Destabilizing | 0.968 | D | 0.586 | neutral | None | None | None | None | N |
| K/T | 0.4618 | ambiguous | 0.4693 | ambiguous | -0.556 | Destabilizing | 0.988 | D | 0.731 | prob.delet. | N | 0.503760065 | None | None | N |
| K/V | 0.5869 | likely_pathogenic | 0.6053 | pathogenic | 0.303 | Stabilizing | 0.995 | D | 0.77 | deleterious | None | None | None | None | N |
| K/W | 0.9133 | likely_pathogenic | 0.9122 | pathogenic | 0.089 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| K/Y | 0.8715 | likely_pathogenic | 0.87 | pathogenic | 0.352 | Stabilizing | 0.998 | D | 0.771 | 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.