Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2669 | 8230;8231;8232 | chr2:178771322;178771321;178771320 | chr2:179636049;179636048;179636047 |
| N2AB | 2669 | 8230;8231;8232 | chr2:178771322;178771321;178771320 | chr2:179636049;179636048;179636047 |
| N2A | 2669 | 8230;8231;8232 | chr2:178771322;178771321;178771320 | chr2:179636049;179636048;179636047 |
| N2B | 2623 | 8092;8093;8094 | chr2:178771322;178771321;178771320 | chr2:179636049;179636048;179636047 |
| Novex-1 | 2623 | 8092;8093;8094 | chr2:178771322;178771321;178771320 | chr2:179636049;179636048;179636047 |
| Novex-2 | 2623 | 8092;8093;8094 | chr2:178771322;178771321;178771320 | chr2:179636049;179636048;179636047 |
| Novex-3 | 2669 | 8230;8231;8232 | chr2:178771322;178771321;178771320 | chr2:179636049;179636048;179636047 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs1209017771  |
-1.098 | 0.427 | N | 0.614 | 0.134 | 0.48300943003 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/F | rs1209017771 |
-1.098 | 0.427 | N | 0.614 | 0.134 | 0.48300943003 | gnomAD-4.0.0 | 1.59059E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| S/T | None | None | 0.003 | N | 0.253 | 0.057 | 0.143124449307 | gnomAD-4.0.0 | 1.5906E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02151E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0723 | likely_benign | 0.0732 | benign | -0.501 | Destabilizing | None | N | 0.241 | neutral | N | 0.445904501 | None | None | N |
| S/C | 0.1251 | likely_benign | 0.1284 | benign | -0.3 | Destabilizing | 0.602 | D | 0.513 | neutral | N | 0.513183643 | None | None | N |
| S/D | 0.175 | likely_benign | 0.1813 | benign | -0.24 | Destabilizing | None | N | 0.237 | neutral | None | None | None | None | N |
| S/E | 0.2274 | likely_benign | 0.239 | benign | -0.345 | Destabilizing | 0.055 | N | 0.432 | neutral | None | None | None | None | N |
| S/F | 0.1684 | likely_benign | 0.1809 | benign | -1.172 | Destabilizing | 0.427 | N | 0.614 | neutral | N | 0.490581739 | None | None | N |
| S/G | 0.0958 | likely_benign | 0.0969 | benign | -0.582 | Destabilizing | 0.055 | N | 0.427 | neutral | None | None | None | None | N |
| S/H | 0.2027 | likely_benign | 0.2102 | benign | -1.147 | Destabilizing | 0.667 | D | 0.525 | neutral | None | None | None | None | N |
| S/I | 0.1023 | likely_benign | 0.1072 | benign | -0.413 | Destabilizing | 0.046 | N | 0.599 | neutral | None | None | None | None | N |
| S/K | 0.2791 | likely_benign | 0.2913 | benign | -0.486 | Destabilizing | 0.001 | N | 0.233 | neutral | None | None | None | None | N |
| S/L | 0.1007 | likely_benign | 0.1036 | benign | -0.413 | Destabilizing | 0.055 | N | 0.612 | neutral | None | None | None | None | N |
| S/M | 0.1455 | likely_benign | 0.1559 | benign | 0.056 | Stabilizing | 0.497 | N | 0.526 | neutral | None | None | None | None | N |
| S/N | 0.0842 | likely_benign | 0.0872 | benign | -0.226 | Destabilizing | 0.22 | N | 0.467 | neutral | None | None | None | None | N |
| S/P | 0.4132 | ambiguous | 0.3506 | ambiguous | -0.417 | Destabilizing | 0.301 | N | 0.525 | neutral | N | 0.510642928 | None | None | N |
| S/Q | 0.2581 | likely_benign | 0.2731 | benign | -0.593 | Destabilizing | 0.124 | N | 0.492 | neutral | None | None | None | None | N |
| S/R | 0.2505 | likely_benign | 0.2607 | benign | -0.21 | Destabilizing | 0.124 | N | 0.527 | neutral | None | None | None | None | N |
| S/T | 0.0625 | likely_benign | 0.0658 | benign | -0.338 | Destabilizing | 0.003 | N | 0.253 | neutral | N | 0.462996711 | None | None | N |
| S/V | 0.1207 | likely_benign | 0.126 | benign | -0.417 | Destabilizing | None | N | 0.397 | neutral | None | None | None | None | N |
| S/W | 0.2738 | likely_benign | 0.2757 | benign | -1.132 | Destabilizing | 0.958 | D | 0.615 | neutral | None | None | None | None | N |
| S/Y | 0.1437 | likely_benign | 0.1483 | benign | -0.866 | Destabilizing | 0.602 | D | 0.615 | neutral | N | 0.495149577 | 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.