Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 189 | 790;791;792 | chr2:178800413;178800412;178800411 | chr2:179665140;179665139;179665138 |
| N2AB | 189 | 790;791;792 | chr2:178800413;178800412;178800411 | chr2:179665140;179665139;179665138 |
| N2A | 189 | 790;791;792 | chr2:178800413;178800412;178800411 | chr2:179665140;179665139;179665138 |
| N2B | 189 | 790;791;792 | chr2:178800413;178800412;178800411 | chr2:179665140;179665139;179665138 |
| Novex-1 | 189 | 790;791;792 | chr2:178800413;178800412;178800411 | chr2:179665140;179665139;179665138 |
| Novex-2 | 189 | 790;791;792 | chr2:178800413;178800412;178800411 | chr2:179665140;179665139;179665138 |
| Novex-3 | 189 | 790;791;792 | chr2:178800413;178800412;178800411 | chr2:179665140;179665139;179665138 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1261657168  |
-1.147 | 0.992 | N | 0.564 | 0.536 | 0.515715180578 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | -1.414(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| A/G | rs1261657168 |
-1.147 | 0.992 | N | 0.564 | 0.536 | 0.515715180578 | gnomAD-4.0.0 | 4.78847E-06 | None | None | None | -1.414(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39583E-06 | 0 | 1.65579E-05 |
| A/S | rs794729610 |
None | 0.9 | D | 0.389 | 0.407 | 0.418964662724 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -1.235(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/S | rs794729610 |
None | 0.9 | D | 0.389 | 0.407 | 0.418964662724 | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | -1.235(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46972E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9463 | likely_pathogenic | 0.9354 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | -0.985(TCAP) | N |
| A/D | 0.9912 | likely_pathogenic | 0.9941 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.784135469 | None | -1.624(TCAP) | N |
| A/E | 0.9888 | likely_pathogenic | 0.9891 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | -1.804(TCAP) | N |
| A/F | 0.9846 | likely_pathogenic | 0.9803 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | -1.469(TCAP) | N |
| A/G | 0.4479 | ambiguous | 0.5515 | ambiguous | -0.967 | Destabilizing | 0.992 | D | 0.564 | neutral | N | 0.51821399 | None | -1.414(TCAP) | N |
| A/H | 0.9956 | likely_pathogenic | 0.9952 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | -1.647(TCAP) | N |
| A/I | 0.9779 | likely_pathogenic | 0.965 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | -2.108(TCAP) | N |
| A/K | 0.9965 | likely_pathogenic | 0.9966 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | -2.624(TCAP) | N |
| A/L | 0.9299 | likely_pathogenic | 0.904 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | -2.108(TCAP) | N |
| A/M | 0.9554 | likely_pathogenic | 0.9367 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | -1.212(TCAP) | N |
| A/N | 0.9897 | likely_pathogenic | 0.9907 | pathogenic | -0.556 | Destabilizing | 0.999 | D | 0.904 | deleterious | None | None | None | -1.305(TCAP) | N |
| A/P | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.784135469 | None | -1.923(TCAP) | N |
| A/Q | 0.9812 | likely_pathogenic | 0.9805 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | -1.514(TCAP) | N |
| A/R | 0.9847 | likely_pathogenic | 0.9858 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | -2.727(TCAP) | N |
| A/S | 0.4215 | ambiguous | 0.4539 | ambiguous | -0.978 | Destabilizing | 0.9 | D | 0.389 | neutral | D | 0.57107145 | None | -1.235(TCAP) | N |
| A/T | 0.7481 | likely_pathogenic | 0.7262 | pathogenic | -0.937 | Destabilizing | 0.999 | D | 0.649 | neutral | N | 0.519800581 | None | -1.447(TCAP) | N |
| A/V | 0.8607 | likely_pathogenic | 0.8086 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.508542445 | None | -1.923(TCAP) | N |
| A/W | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | -1.593(TCAP) | N |
| A/Y | 0.9944 | likely_pathogenic | 0.9929 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | -1.376(TCAP) | 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.