Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33352 | 100279;100280;100281 | chr2:178537055;178537054;178537053 | chr2:179401782;179401781;179401780 |
| N2AB | 31711 | 95356;95357;95358 | chr2:178537055;178537054;178537053 | chr2:179401782;179401781;179401780 |
| N2A | 30784 | 92575;92576;92577 | chr2:178537055;178537054;178537053 | chr2:179401782;179401781;179401780 |
| N2B | 24287 | 73084;73085;73086 | chr2:178537055;178537054;178537053 | chr2:179401782;179401781;179401780 |
| Novex-1 | 24412 | 73459;73460;73461 | chr2:178537055;178537054;178537053 | chr2:179401782;179401781;179401780 |
| Novex-2 | 24479 | 73660;73661;73662 | chr2:178537055;178537054;178537053 | chr2:179401782;179401781;179401780 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1221389929  |
-0.669 | 1.0 | N | 0.709 | 0.389 | 0.492681238296 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs1221389929 |
-0.669 | 1.0 | N | 0.709 | 0.389 | 0.492681238296 | gnomAD-4.0.0 | 1.59287E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77778E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9405 | likely_pathogenic | 0.9508 | pathogenic | -0.241 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| R/C | 0.6798 | likely_pathogenic | 0.7028 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| R/D | 0.9743 | likely_pathogenic | 0.9805 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/E | 0.8575 | likely_pathogenic | 0.8939 | pathogenic | 0.158 | Stabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| R/F | 0.9662 | likely_pathogenic | 0.9727 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| R/G | 0.9037 | likely_pathogenic | 0.9127 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.515094567 | None | None | N |
| R/H | 0.3944 | ambiguous | 0.4414 | ambiguous | -0.878 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| R/I | 0.8745 | likely_pathogenic | 0.8927 | pathogenic | 0.395 | Stabilizing | 1.0 | D | 0.777 | deleterious | N | 0.475093384 | None | None | N |
| R/K | 0.3541 | ambiguous | 0.3793 | ambiguous | -0.259 | Destabilizing | 0.997 | D | 0.52 | neutral | N | 0.369966074 | None | None | N |
| R/L | 0.7968 | likely_pathogenic | 0.8352 | pathogenic | 0.395 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| R/M | 0.8964 | likely_pathogenic | 0.9122 | pathogenic | -0.05 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| R/N | 0.9464 | likely_pathogenic | 0.9608 | pathogenic | 0.037 | Stabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| R/P | 0.9487 | likely_pathogenic | 0.9577 | pathogenic | 0.204 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| R/Q | 0.3653 | ambiguous | 0.4264 | ambiguous | -0.075 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/S | 0.9428 | likely_pathogenic | 0.9503 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.480211202 | None | None | N |
| R/T | 0.8601 | likely_pathogenic | 0.8879 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.389258337 | None | None | N |
| R/V | 0.9028 | likely_pathogenic | 0.9186 | pathogenic | 0.204 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| R/W | 0.7259 | likely_pathogenic | 0.7483 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| R/Y | 0.9059 | likely_pathogenic | 0.9215 | pathogenic | 0.168 | Stabilizing | 1.0 | D | 0.787 | 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.