Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32108 | 96547;96548;96549 | chr2:178543651;178543650;178543649 | chr2:179408378;179408377;179408376 |
| N2AB | 30467 | 91624;91625;91626 | chr2:178543651;178543650;178543649 | chr2:179408378;179408377;179408376 |
| N2A | 29540 | 88843;88844;88845 | chr2:178543651;178543650;178543649 | chr2:179408378;179408377;179408376 |
| N2B | 23043 | 69352;69353;69354 | chr2:178543651;178543650;178543649 | chr2:179408378;179408377;179408376 |
| Novex-1 | 23168 | 69727;69728;69729 | chr2:178543651;178543650;178543649 | chr2:179408378;179408377;179408376 |
| Novex-2 | 23235 | 69928;69929;69930 | chr2:178543651;178543650;178543649 | chr2:179408378;179408377;179408376 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | N | 0.808 | 0.488 | 0.713599342433 | gnomAD-4.0.0 | 1.3971E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81602E-06 | 0 | 0 |
| P/R | None | None | 1.0 | N | 0.813 | 0.483 | 0.536474986538 | gnomAD-4.0.0 | 6.98552E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.08008E-07 | 0 | 0 |
| P/S | rs779955397  |
-1.383 | 1.0 | N | 0.778 | 0.443 | 0.451882325854 | gnomAD-2.1.1 | 4.39E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.31E-06 | 0 |
| P/S | rs779955397 |
-1.383 | 1.0 | N | 0.778 | 0.443 | 0.451882325854 | gnomAD-4.0.0 | 6.97935E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.07316E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1031 | likely_benign | 0.0995 | benign | -1.644 | Destabilizing | 0.999 | D | 0.73 | prob.delet. | N | 0.468972701 | None | None | N |
| P/C | 0.5484 | ambiguous | 0.5492 | ambiguous | -0.877 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/D | 0.8144 | likely_pathogenic | 0.8024 | pathogenic | -1.931 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| P/E | 0.5675 | likely_pathogenic | 0.5501 | ambiguous | -1.946 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| P/F | 0.6808 | likely_pathogenic | 0.648 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/G | 0.4846 | ambiguous | 0.4822 | ambiguous | -1.948 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/H | 0.4102 | ambiguous | 0.3793 | ambiguous | -1.565 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.501932208 | None | None | N |
| P/I | 0.4342 | ambiguous | 0.4221 | ambiguous | -0.893 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/K | 0.487 | ambiguous | 0.463 | ambiguous | -1.325 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| P/L | 0.2601 | likely_benign | 0.2395 | benign | -0.893 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.506741147 | None | None | N |
| P/M | 0.4712 | ambiguous | 0.46 | ambiguous | -0.529 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/N | 0.5968 | likely_pathogenic | 0.599 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/Q | 0.2986 | likely_benign | 0.292 | benign | -1.279 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/R | 0.3231 | likely_benign | 0.2955 | benign | -0.761 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.492777949 | None | None | N |
| P/S | 0.2317 | likely_benign | 0.225 | benign | -1.474 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.482053527 | None | None | N |
| P/T | 0.2278 | likely_benign | 0.2197 | benign | -1.4 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.500664761 | None | None | N |
| P/V | 0.3 | likely_benign | 0.2915 | benign | -1.112 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/W | 0.8811 | likely_pathogenic | 0.8549 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/Y | 0.7013 | likely_pathogenic | 0.6684 | pathogenic | -1.303 | Destabilizing | 1.0 | D | 0.842 | 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.