Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29736 | 89431;89432;89433 | chr2:178553799;178553798;178553797 | chr2:179418526;179418525;179418524 |
| N2AB | 28095 | 84508;84509;84510 | chr2:178553799;178553798;178553797 | chr2:179418526;179418525;179418524 |
| N2A | 27168 | 81727;81728;81729 | chr2:178553799;178553798;178553797 | chr2:179418526;179418525;179418524 |
| N2B | 20671 | 62236;62237;62238 | chr2:178553799;178553798;178553797 | chr2:179418526;179418525;179418524 |
| Novex-1 | 20796 | 62611;62612;62613 | chr2:178553799;178553798;178553797 | chr2:179418526;179418525;179418524 |
| Novex-2 | 20863 | 62812;62813;62814 | chr2:178553799;178553798;178553797 | chr2:179418526;179418525;179418524 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1454670479  |
None | 0.997 | N | 0.579 | 0.328 | 0.258283824007 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs1454670479 |
None | 0.997 | N | 0.579 | 0.328 | 0.258283824007 | gnomAD-4.0.0 | 2.51311E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.42368E-06 | 0 | 0 |
| G/V | rs1454670479 |
-0.167 | 1.0 | N | 0.849 | 0.362 | 0.772357093535 | gnomAD-2.1.1 | 4.35E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2931 | likely_benign | 0.2614 | benign | -0.834 | Destabilizing | 0.997 | D | 0.579 | neutral | N | 0.499486219 | None | None | N |
| G/C | 0.5523 | ambiguous | 0.4574 | ambiguous | -1.175 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.5193649 | None | None | N |
| G/D | 0.8027 | likely_pathogenic | 0.7612 | pathogenic | -1.877 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.502181198 | None | None | N |
| G/E | 0.8117 | likely_pathogenic | 0.7552 | pathogenic | -1.902 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/F | 0.8661 | likely_pathogenic | 0.8195 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/H | 0.8953 | likely_pathogenic | 0.8496 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/I | 0.8417 | likely_pathogenic | 0.772 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/K | 0.9378 | likely_pathogenic | 0.9093 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/L | 0.7754 | likely_pathogenic | 0.7236 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/M | 0.8447 | likely_pathogenic | 0.7913 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/N | 0.7875 | likely_pathogenic | 0.7534 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/P | 0.9876 | likely_pathogenic | 0.985 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/Q | 0.8502 | likely_pathogenic | 0.7941 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/R | 0.8964 | likely_pathogenic | 0.8432 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.495384842 | None | None | N |
| G/S | 0.2022 | likely_benign | 0.1827 | benign | -1.328 | Destabilizing | 0.982 | D | 0.551 | neutral | N | 0.458826575 | None | None | N |
| G/T | 0.6095 | likely_pathogenic | 0.5364 | ambiguous | -1.286 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| G/V | 0.7577 | likely_pathogenic | 0.6678 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.519111411 | None | None | N |
| G/W | 0.8561 | likely_pathogenic | 0.8056 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/Y | 0.8124 | likely_pathogenic | 0.7601 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.834 | 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.