Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24205 | 72838;72839;72840 | chr2:178573519;178573518;178573517 | chr2:179438246;179438245;179438244 |
| N2AB | 22564 | 67915;67916;67917 | chr2:178573519;178573518;178573517 | chr2:179438246;179438245;179438244 |
| N2A | 21637 | 65134;65135;65136 | chr2:178573519;178573518;178573517 | chr2:179438246;179438245;179438244 |
| N2B | 15140 | 45643;45644;45645 | chr2:178573519;178573518;178573517 | chr2:179438246;179438245;179438244 |
| Novex-1 | 15265 | 46018;46019;46020 | chr2:178573519;178573518;178573517 | chr2:179438246;179438245;179438244 |
| Novex-2 | 15332 | 46219;46220;46221 | chr2:178573519;178573518;178573517 | chr2:179438246;179438245;179438244 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs1322881049  |
None | 0.997 | N | 0.679 | 0.254 | 0.413241256734 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1322881049 |
None | 0.997 | N | 0.679 | 0.254 | 0.413241256734 | gnomAD-4.0.0 | 6.57609E-06 | None | None | None | None | N | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | None | None | 1.0 | N | 0.827 | 0.263 | 0.453307948783 | gnomAD-4.0.0 | 1.78312E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.07812E-05 | 0 | 3.6105E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0968 | likely_benign | 0.12 | benign | -1.091 | Destabilizing | 0.999 | D | 0.704 | prob.neutral | N | 0.494025861 | None | None | N |
| V/C | 0.5823 | likely_pathogenic | 0.6559 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| V/D | 0.3166 | likely_benign | 0.3771 | ambiguous | -0.698 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| V/E | 0.245 | likely_benign | 0.2821 | benign | -0.773 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.48969469 | None | None | N |
| V/F | 0.162 | likely_benign | 0.1856 | benign | -1.031 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/G | 0.1982 | likely_benign | 0.2512 | benign | -1.314 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.485723603 | None | None | N |
| V/H | 0.5451 | ambiguous | 0.6212 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| V/I | 0.065 | likely_benign | 0.068 | benign | -0.621 | Destabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | N |
| V/K | 0.3699 | ambiguous | 0.4243 | ambiguous | -0.834 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/L | 0.1606 | likely_benign | 0.204 | benign | -0.621 | Destabilizing | 0.997 | D | 0.679 | prob.neutral | N | 0.467012618 | None | None | N |
| V/M | 0.1194 | likely_benign | 0.1416 | benign | -0.489 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.467191729 | None | None | N |
| V/N | 0.2304 | likely_benign | 0.3008 | benign | -0.52 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| V/P | 0.2945 | likely_benign | 0.3595 | ambiguous | -0.742 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/Q | 0.3148 | likely_benign | 0.3643 | ambiguous | -0.784 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| V/R | 0.3319 | likely_benign | 0.3867 | ambiguous | -0.233 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| V/S | 0.1488 | likely_benign | 0.193 | benign | -0.999 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/T | 0.0984 | likely_benign | 0.1173 | benign | -0.969 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| V/W | 0.7555 | likely_pathogenic | 0.7967 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/Y | 0.4974 | ambiguous | 0.5745 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.821 | 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.