Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14658 | 44197;44198;44199 | chr2:178631076;178631075;178631074 | chr2:179495803;179495802;179495801 |
| N2AB | 13017 | 39274;39275;39276 | chr2:178631076;178631075;178631074 | chr2:179495803;179495802;179495801 |
| N2A | 12090 | 36493;36494;36495 | chr2:178631076;178631075;178631074 | chr2:179495803;179495802;179495801 |
| N2B | 5593 | 17002;17003;17004 | chr2:178631076;178631075;178631074 | chr2:179495803;179495802;179495801 |
| Novex-1 | 5718 | 17377;17378;17379 | chr2:178631076;178631075;178631074 | chr2:179495803;179495802;179495801 |
| Novex-2 | 5785 | 17578;17579;17580 | chr2:178631076;178631075;178631074 | chr2:179495803;179495802;179495801 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs574681280  |
-1.304 | 0.989 | D | 0.625 | 0.349 | 0.424670345773 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63527E-04 | None | 0 | 0 | 0 |
| D/G | rs574681280 |
-1.304 | 0.989 | D | 0.625 | 0.349 | 0.424670345773 | gnomAD-4.0.0 | 4.79094E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95862E-05 | 1.65739E-05 |
| D/N | rs1397760858 |
None | 0.989 | N | 0.625 | 0.305 | 0.426670027402 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1397760858 |
None | 0.989 | N | 0.625 | 0.305 | 0.426670027402 | gnomAD-4.0.0 | 6.57479E-06 | None | None | None | None | N | None | 0 | 6.55136E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | None | None | 0.998 | N | 0.805 | 0.448 | 0.585593966701 | gnomAD-4.0.0 | 2.73768E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69882E-06 | 0 | 1.65739E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3673 | ambiguous | 0.4066 | ambiguous | -0.479 | Destabilizing | 0.978 | D | 0.647 | neutral | N | 0.508912395 | None | None | N |
| D/C | 0.8425 | likely_pathogenic | 0.8632 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| D/E | 0.4102 | ambiguous | 0.4213 | ambiguous | -0.685 | Destabilizing | 0.543 | D | 0.281 | neutral | N | 0.456861496 | None | None | N |
| D/F | 0.7646 | likely_pathogenic | 0.7815 | pathogenic | -0.078 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/G | 0.5414 | ambiguous | 0.5998 | pathogenic | -0.92 | Destabilizing | 0.989 | D | 0.625 | neutral | D | 0.575334026 | None | None | N |
| D/H | 0.4725 | ambiguous | 0.5273 | ambiguous | -0.451 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.499489921 | None | None | N |
| D/I | 0.4829 | ambiguous | 0.511 | ambiguous | 0.719 | Stabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| D/K | 0.6967 | likely_pathogenic | 0.7495 | pathogenic | -0.606 | Destabilizing | 0.992 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/L | 0.5933 | likely_pathogenic | 0.6332 | pathogenic | 0.719 | Stabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| D/M | 0.8451 | likely_pathogenic | 0.8573 | pathogenic | 1.313 | Stabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| D/N | 0.1568 | likely_benign | 0.1599 | benign | -1.087 | Destabilizing | 0.989 | D | 0.625 | neutral | N | 0.506845012 | None | None | N |
| D/P | 0.9805 | likely_pathogenic | 0.9865 | pathogenic | 0.346 | Stabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| D/Q | 0.6622 | likely_pathogenic | 0.704 | pathogenic | -0.796 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/R | 0.66 | likely_pathogenic | 0.7171 | pathogenic | -0.586 | Destabilizing | 0.998 | D | 0.791 | deleterious | None | None | None | None | N |
| D/S | 0.2357 | likely_benign | 0.2467 | benign | -1.536 | Destabilizing | 0.914 | D | 0.293 | neutral | None | None | None | None | N |
| D/T | 0.479 | ambiguous | 0.528 | ambiguous | -1.141 | Destabilizing | 0.983 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/V | 0.337 | likely_benign | 0.3575 | ambiguous | 0.346 | Stabilizing | 0.998 | D | 0.805 | deleterious | N | 0.476261702 | None | None | N |
| D/W | 0.9556 | likely_pathogenic | 0.9654 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| D/Y | 0.3296 | likely_benign | 0.3679 | ambiguous | 0.147 | Stabilizing | 1.0 | D | 0.809 | deleterious | D | 0.575334026 | 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.