Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19668 | 59227;59228;59229 | chr2:178593206;178593205;178593204 | chr2:179457933;179457932;179457931 |
| N2AB | 18027 | 54304;54305;54306 | chr2:178593206;178593205;178593204 | chr2:179457933;179457932;179457931 |
| N2A | 17100 | 51523;51524;51525 | chr2:178593206;178593205;178593204 | chr2:179457933;179457932;179457931 |
| N2B | 10603 | 32032;32033;32034 | chr2:178593206;178593205;178593204 | chr2:179457933;179457932;179457931 |
| Novex-1 | 10728 | 32407;32408;32409 | chr2:178593206;178593205;178593204 | chr2:179457933;179457932;179457931 |
| Novex-2 | 10795 | 32608;32609;32610 | chr2:178593206;178593205;178593204 | chr2:179457933;179457932;179457931 |
| 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 | rs794729465  |
-0.468 | 0.998 | N | 0.795 | 0.359 | 0.688008359126 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/L | rs794729465 |
-0.468 | 0.998 | N | 0.795 | 0.359 | 0.688008359126 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs794729465 |
-0.468 | 0.998 | N | 0.795 | 0.359 | 0.688008359126 | gnomAD-4.0.0 | 2.23151E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.9671E-05 | 1.09825E-05 | 0 |
| P/Q | rs794729465 |
None | 0.998 | N | 0.733 | 0.373 | 0.634485840324 | gnomAD-4.0.0 | 2.73751E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47907E-05 | 1.65722E-05 |
| P/S | None | None | 0.835 | N | 0.407 | 0.293 | 0.379366414296 | gnomAD-4.0.0 | 1.36875E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79919E-06 | 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 | 0.0695 | likely_benign | 0.0718 | benign | -1.776 | Destabilizing | 0.966 | D | 0.739 | deleterious | N | 0.516034008 | None | None | N |
| P/C | 0.5365 | ambiguous | 0.5729 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/D | 0.8618 | likely_pathogenic | 0.8707 | pathogenic | -1.88 | Destabilizing | 0.996 | D | 0.681 | prob.neutral | None | None | None | None | N |
| P/E | 0.5958 | likely_pathogenic | 0.6212 | pathogenic | -1.822 | Destabilizing | 0.996 | D | 0.715 | prob.delet. | None | None | None | None | N |
| P/F | 0.7181 | likely_pathogenic | 0.7335 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/G | 0.5677 | likely_pathogenic | 0.6011 | pathogenic | -2.154 | Highly Destabilizing | 0.987 | D | 0.817 | deleterious | None | None | None | None | N |
| P/H | 0.5063 | ambiguous | 0.5117 | ambiguous | -1.73 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/I | 0.284 | likely_benign | 0.3186 | benign | -0.801 | Destabilizing | 0.998 | D | 0.851 | deleterious | None | None | None | None | N |
| P/K | 0.6645 | likely_pathogenic | 0.6668 | pathogenic | -1.299 | Destabilizing | 0.996 | D | 0.687 | prob.delet. | None | None | None | None | N |
| P/L | 0.2196 | likely_benign | 0.2216 | benign | -0.801 | Destabilizing | 0.998 | D | 0.795 | deleterious | N | 0.48905428 | None | None | N |
| P/M | 0.4605 | ambiguous | 0.4954 | ambiguous | -0.63 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/N | 0.7187 | likely_pathogenic | 0.747 | pathogenic | -1.2 | Destabilizing | 0.996 | D | 0.827 | deleterious | None | None | None | None | N |
| P/Q | 0.4068 | ambiguous | 0.4207 | ambiguous | -1.323 | Destabilizing | 0.998 | D | 0.733 | deleterious | N | 0.512336322 | None | None | N |
| P/R | 0.5123 | ambiguous | 0.5 | ambiguous | -0.854 | Destabilizing | 0.998 | D | 0.82 | deleterious | N | 0.514791857 | None | None | N |
| P/S | 0.2061 | likely_benign | 0.2157 | benign | -1.752 | Destabilizing | 0.835 | D | 0.407 | neutral | N | 0.504971653 | None | None | N |
| P/T | 0.1681 | likely_benign | 0.1797 | benign | -1.585 | Destabilizing | 0.99 | D | 0.758 | deleterious | D | 0.526443003 | None | None | N |
| P/V | 0.1806 | likely_benign | 0.2004 | benign | -1.094 | Destabilizing | 0.998 | D | 0.809 | deleterious | None | None | None | None | N |
| P/W | 0.8925 | likely_pathogenic | 0.8982 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/Y | 0.7499 | likely_pathogenic | 0.7624 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.885 | 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.