Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20878 | 62857;62858;62859 | chr2:178589093;178589092;178589091 | chr2:179453820;179453819;179453818 |
| N2AB | 19237 | 57934;57935;57936 | chr2:178589093;178589092;178589091 | chr2:179453820;179453819;179453818 |
| N2A | 18310 | 55153;55154;55155 | chr2:178589093;178589092;178589091 | chr2:179453820;179453819;179453818 |
| N2B | 11813 | 35662;35663;35664 | chr2:178589093;178589092;178589091 | chr2:179453820;179453819;179453818 |
| Novex-1 | 11938 | 36037;36038;36039 | chr2:178589093;178589092;178589091 | chr2:179453820;179453819;179453818 |
| Novex-2 | 12005 | 36238;36239;36240 | chr2:178589093;178589092;178589091 | chr2:179453820;179453819;179453818 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1470748172  |
-0.936 | 0.454 | N | 0.4 | 0.182 | 0.132336055621 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 5.07E-05 | 0 | 0 |
| S/G | rs1470748172 |
-0.936 | 0.454 | N | 0.4 | 0.182 | 0.132336055621 | gnomAD-4.0.0 | 1.59929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.98555E-05 | 0 | 0 | 0 | 0 |
| S/R | rs1470748172 |
-0.429 | 0.934 | N | 0.484 | 0.234 | 0.285316908763 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs1470748172 |
-0.429 | 0.934 | N | 0.484 | 0.234 | 0.285316908763 | gnomAD-4.0.0 | 3.19859E-06 | None | None | None | None | N | None | 0 | 4.57792E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | None | None | 0.051 | N | 0.118 | 0.097 | 0.112648838833 | gnomAD-4.0.0 | 3.19909E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85945E-06 | 1.43291E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0657 | likely_benign | 0.0631 | benign | -0.472 | Destabilizing | 0.029 | N | 0.092 | neutral | None | None | None | None | N |
| S/C | 0.1019 | likely_benign | 0.1057 | benign | -0.554 | Destabilizing | 0.997 | D | 0.477 | neutral | N | 0.495743589 | None | None | N |
| S/D | 0.4845 | ambiguous | 0.5066 | ambiguous | -1.141 | Destabilizing | 0.728 | D | 0.37 | neutral | None | None | None | None | N |
| S/E | 0.5058 | ambiguous | 0.5146 | ambiguous | -1.187 | Destabilizing | 0.842 | D | 0.38 | neutral | None | None | None | None | N |
| S/F | 0.2769 | likely_benign | 0.2738 | benign | -1.018 | Destabilizing | 0.974 | D | 0.54 | neutral | None | None | None | None | N |
| S/G | 0.0871 | likely_benign | 0.0828 | benign | -0.629 | Destabilizing | 0.454 | N | 0.4 | neutral | N | 0.424246063 | None | None | N |
| S/H | 0.3459 | ambiguous | 0.3433 | ambiguous | -1.245 | Destabilizing | 0.974 | D | 0.484 | neutral | None | None | None | None | N |
| S/I | 0.1646 | likely_benign | 0.1795 | benign | -0.171 | Destabilizing | 0.669 | D | 0.483 | neutral | N | 0.465940757 | None | None | N |
| S/K | 0.4846 | ambiguous | 0.47 | ambiguous | -0.708 | Destabilizing | 0.842 | D | 0.368 | neutral | None | None | None | None | N |
| S/L | 0.1047 | likely_benign | 0.1116 | benign | -0.171 | Destabilizing | 0.525 | D | 0.484 | neutral | None | None | None | None | N |
| S/M | 0.1819 | likely_benign | 0.1875 | benign | 0.283 | Stabilizing | 0.974 | D | 0.487 | neutral | None | None | None | None | N |
| S/N | 0.1387 | likely_benign | 0.1425 | benign | -0.753 | Destabilizing | 0.012 | N | 0.328 | neutral | N | 0.455665048 | None | None | N |
| S/P | 0.1474 | likely_benign | 0.1357 | benign | -0.242 | Destabilizing | 0.974 | D | 0.483 | neutral | None | None | None | None | N |
| S/Q | 0.4052 | ambiguous | 0.3884 | ambiguous | -1.114 | Destabilizing | 0.974 | D | 0.43 | neutral | None | None | None | None | N |
| S/R | 0.4299 | ambiguous | 0.4262 | ambiguous | -0.42 | Destabilizing | 0.934 | D | 0.484 | neutral | N | 0.425382214 | None | None | N |
| S/T | 0.0906 | likely_benign | 0.0901 | benign | -0.673 | Destabilizing | 0.051 | N | 0.118 | neutral | N | 0.453798179 | None | None | N |
| S/V | 0.1497 | likely_benign | 0.1622 | benign | -0.242 | Destabilizing | 0.067 | N | 0.259 | neutral | None | None | None | None | N |
| S/W | 0.4193 | ambiguous | 0.4355 | ambiguous | -1.033 | Destabilizing | 0.998 | D | 0.61 | neutral | None | None | None | None | N |
| S/Y | 0.2534 | likely_benign | 0.2589 | benign | -0.714 | Destabilizing | 0.991 | D | 0.545 | neutral | 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.