Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16306 | 49141;49142;49143 | chr2:178614598;178614597;178614596 | chr2:179479325;179479324;179479323 |
| N2AB | 14665 | 44218;44219;44220 | chr2:178614598;178614597;178614596 | chr2:179479325;179479324;179479323 |
| N2A | 13738 | 41437;41438;41439 | chr2:178614598;178614597;178614596 | chr2:179479325;179479324;179479323 |
| N2B | 7241 | 21946;21947;21948 | chr2:178614598;178614597;178614596 | chr2:179479325;179479324;179479323 |
| Novex-1 | 7366 | 22321;22322;22323 | chr2:178614598;178614597;178614596 | chr2:179479325;179479324;179479323 |
| Novex-2 | 7433 | 22522;22523;22524 | chr2:178614598;178614597;178614596 | chr2:179479325;179479324;179479323 |
| 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 | rs767671184  |
-0.759 | 0.64 | N | 0.361 | 0.101 | 0.229264304666 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/A | rs767671184 |
-0.759 | 0.64 | N | 0.361 | 0.101 | 0.229264304666 | gnomAD-4.0.0 | 6.84727E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65898E-05 |
| T/I | rs2056961264 |
None | 0.984 | N | 0.476 | 0.282 | 0.445007932271 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07987E-04 | 0 |
| T/I | rs2056961264 |
None | 0.984 | N | 0.476 | 0.282 | 0.445007932271 | gnomAD-4.0.0 | 6.59074E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07987E-04 | 0 |
| T/P | rs767671184 |
-0.438 | 0.984 | D | 0.465 | 0.47 | 0.394685799254 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66945E-04 |
| T/P | rs767671184 |
-0.438 | 0.984 | D | 0.465 | 0.47 | 0.394685799254 | gnomAD-4.0.0 | 3.42364E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49947E-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 | 0.0833 | likely_benign | 0.0814 | benign | -1.017 | Destabilizing | 0.64 | D | 0.361 | neutral | N | 0.507483953 | None | None | N |
| T/C | 0.3394 | likely_benign | 0.3023 | benign | -0.857 | Destabilizing | 0.999 | D | 0.533 | neutral | None | None | None | None | N |
| T/D | 0.3725 | ambiguous | 0.3574 | ambiguous | -0.875 | Destabilizing | 0.851 | D | 0.436 | neutral | None | None | None | None | N |
| T/E | 0.3171 | likely_benign | 0.2891 | benign | -0.838 | Destabilizing | 0.919 | D | 0.422 | neutral | None | None | None | None | N |
| T/F | 0.219 | likely_benign | 0.2178 | benign | -1.082 | Destabilizing | 0.996 | D | 0.599 | neutral | None | None | None | None | N |
| T/G | 0.2555 | likely_benign | 0.2293 | benign | -1.291 | Destabilizing | 0.702 | D | 0.51 | neutral | None | None | None | None | N |
| T/H | 0.1956 | likely_benign | 0.1921 | benign | -1.59 | Destabilizing | 0.988 | D | 0.599 | neutral | None | None | None | None | N |
| T/I | 0.134 | likely_benign | 0.1343 | benign | -0.364 | Destabilizing | 0.984 | D | 0.476 | neutral | N | 0.51116012 | None | None | N |
| T/K | 0.1818 | likely_benign | 0.1794 | benign | -0.826 | Destabilizing | 0.919 | D | 0.419 | neutral | None | None | None | None | N |
| T/L | 0.106 | likely_benign | 0.1061 | benign | -0.364 | Destabilizing | 0.919 | D | 0.422 | neutral | None | None | None | None | N |
| T/M | 0.0964 | likely_benign | 0.0994 | benign | -0.066 | Destabilizing | 0.999 | D | 0.539 | neutral | None | None | None | None | N |
| T/N | 0.1033 | likely_benign | 0.0989 | benign | -0.952 | Destabilizing | 0.026 | N | 0.257 | neutral | N | 0.499938958 | None | None | N |
| T/P | 0.7528 | likely_pathogenic | 0.8094 | pathogenic | -0.551 | Destabilizing | 0.984 | D | 0.465 | neutral | D | 0.58783913 | None | None | N |
| T/Q | 0.2078 | likely_benign | 0.2047 | benign | -1.141 | Destabilizing | 0.988 | D | 0.503 | neutral | None | None | None | None | N |
| T/R | 0.1685 | likely_benign | 0.1751 | benign | -0.629 | Destabilizing | 0.976 | D | 0.466 | neutral | None | None | None | None | N |
| T/S | 0.096 | likely_benign | 0.0887 | benign | -1.206 | Destabilizing | 0.046 | N | 0.138 | neutral | N | 0.498571394 | None | None | N |
| T/V | 0.1184 | likely_benign | 0.117 | benign | -0.551 | Destabilizing | 0.919 | D | 0.359 | neutral | None | None | None | None | N |
| T/W | 0.6154 | likely_pathogenic | 0.6128 | pathogenic | -1.014 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| T/Y | 0.2683 | likely_benign | 0.249 | benign | -0.746 | Destabilizing | 0.996 | D | 0.603 | 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.