Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14664 | 44215;44216;44217 | chr2:178631058;178631057;178631056 | chr2:179495785;179495784;179495783 |
| N2AB | 13023 | 39292;39293;39294 | chr2:178631058;178631057;178631056 | chr2:179495785;179495784;179495783 |
| N2A | 12096 | 36511;36512;36513 | chr2:178631058;178631057;178631056 | chr2:179495785;179495784;179495783 |
| N2B | 5599 | 17020;17021;17022 | chr2:178631058;178631057;178631056 | chr2:179495785;179495784;179495783 |
| Novex-1 | 5724 | 17395;17396;17397 | chr2:178631058;178631057;178631056 | chr2:179495785;179495784;179495783 |
| Novex-2 | 5791 | 17596;17597;17598 | chr2:178631058;178631057;178631056 | chr2:179495785;179495784;179495783 |
| 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/S | rs768825478  |
-1.636 | 0.999 | N | 0.512 | 0.228 | 0.229924730088 | gnomAD-2.1.1 | 4.65E-05 | None | None | None | None | N | None | 0 | 3.68523E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs768825478 |
-1.636 | 0.999 | N | 0.512 | 0.228 | 0.229924730088 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs768825478 |
-1.636 | 0.999 | N | 0.512 | 0.228 | 0.229924730088 | gnomAD-4.0.0 | 1.79493E-05 | None | None | None | None | N | None | 0 | 2.37441E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.3312 | likely_benign | 0.4349 | ambiguous | -1.184 | Destabilizing | 0.999 | D | 0.535 | neutral | N | 0.461042984 | None | None | N |
| T/C | 0.8278 | likely_pathogenic | 0.8766 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| T/D | 0.9232 | likely_pathogenic | 0.9489 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| T/E | 0.9056 | likely_pathogenic | 0.938 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/F | 0.8481 | likely_pathogenic | 0.9172 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| T/G | 0.7844 | likely_pathogenic | 0.8265 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| T/H | 0.864 | likely_pathogenic | 0.9128 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| T/I | 0.6715 | likely_pathogenic | 0.8213 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.577730615 | None | None | N |
| T/K | 0.9113 | likely_pathogenic | 0.9503 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| T/L | 0.5441 | ambiguous | 0.7082 | pathogenic | -0.251 | Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | N |
| T/M | 0.3202 | likely_benign | 0.4449 | ambiguous | -0.039 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| T/N | 0.5686 | likely_pathogenic | 0.6692 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.668183822 | None | None | N |
| T/P | 0.8655 | likely_pathogenic | 0.9352 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.66977089 | None | None | N |
| T/Q | 0.8608 | likely_pathogenic | 0.9112 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| T/R | 0.8725 | likely_pathogenic | 0.9272 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| T/S | 0.3505 | ambiguous | 0.3714 | ambiguous | -1.445 | Destabilizing | 0.999 | D | 0.512 | neutral | N | 0.446506594 | None | None | N |
| T/V | 0.5494 | ambiguous | 0.69 | pathogenic | -0.53 | Destabilizing | 0.999 | D | 0.567 | neutral | None | None | None | None | N |
| T/W | 0.9725 | likely_pathogenic | 0.985 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/Y | 0.8647 | likely_pathogenic | 0.9259 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.837 | 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.