Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2628 | 8107;8108;8109 | chr2:178771445;178771444;178771443 | chr2:179636172;179636171;179636170 |
| N2AB | 2628 | 8107;8108;8109 | chr2:178771445;178771444;178771443 | chr2:179636172;179636171;179636170 |
| N2A | 2628 | 8107;8108;8109 | chr2:178771445;178771444;178771443 | chr2:179636172;179636171;179636170 |
| N2B | 2582 | 7969;7970;7971 | chr2:178771445;178771444;178771443 | chr2:179636172;179636171;179636170 |
| Novex-1 | 2582 | 7969;7970;7971 | chr2:178771445;178771444;178771443 | chr2:179636172;179636171;179636170 |
| Novex-2 | 2582 | 7969;7970;7971 | chr2:178771445;178771444;178771443 | chr2:179636172;179636171;179636170 |
| Novex-3 | 2628 | 8107;8108;8109 | chr2:178771445;178771444;178771443 | chr2:179636172;179636171;179636170 |
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/N | rs1401260023  |
None | 1.0 | N | 0.631 | 0.377 | 0.434716162284 | 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 |
| D/N | rs1401260023 |
None | 1.0 | N | 0.631 | 0.377 | 0.434716162284 | gnomAD-4.0.0 | 3.84271E-06 | None | None | None | None | N | None | 0 | 1.69486E-05 | None | 0 | 0 | None | 0 | 0 | 2.39272E-06 | 0 | 2.84301E-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 | 0.7428 | likely_pathogenic | 0.671 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.653133125 | None | None | N |
| D/C | 0.9599 | likely_pathogenic | 0.9421 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| D/E | 0.6636 | likely_pathogenic | 0.6075 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.433 | neutral | D | 0.612627894 | None | None | N |
| D/F | 0.9766 | likely_pathogenic | 0.9594 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/G | 0.6879 | likely_pathogenic | 0.6018 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.65626738 | None | None | N |
| D/H | 0.7891 | likely_pathogenic | 0.69 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.684166545 | None | None | N |
| D/I | 0.9499 | likely_pathogenic | 0.9217 | pathogenic | 0.213 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/K | 0.9337 | likely_pathogenic | 0.8844 | pathogenic | 0.237 | Stabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| D/L | 0.9337 | likely_pathogenic | 0.9043 | pathogenic | 0.213 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/M | 0.9778 | likely_pathogenic | 0.9662 | pathogenic | 0.402 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| D/N | 0.18 | likely_benign | 0.1593 | benign | -0.147 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.51508474 | None | None | N |
| D/P | 0.9122 | likely_pathogenic | 0.8958 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/Q | 0.9137 | likely_pathogenic | 0.8664 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| D/R | 0.9479 | likely_pathogenic | 0.9033 | pathogenic | 0.421 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/S | 0.3943 | ambiguous | 0.3337 | benign | -0.261 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| D/T | 0.7937 | likely_pathogenic | 0.7417 | pathogenic | -0.074 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| D/V | 0.8921 | likely_pathogenic | 0.8406 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.758 | deleterious | D | 0.628156508 | None | None | N |
| D/W | 0.9947 | likely_pathogenic | 0.9904 | pathogenic | -0.038 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/Y | 0.8334 | likely_pathogenic | 0.7352 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.623650114 | 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.