Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9599 | 29020;29021;29022 | chr2:178707772;178707771;178707770 | chr2:179572499;179572498;179572497 |
| N2AB | 9282 | 28069;28070;28071 | chr2:178707772;178707771;178707770 | chr2:179572499;179572498;179572497 |
| N2A | 8355 | 25288;25289;25290 | chr2:178707772;178707771;178707770 | chr2:179572499;179572498;179572497 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs887090503  |
None | 0.201 | None | 0.382 | 0.131 | 0.388334884743 | gnomAD-4.0.0 | 1.36882E-06 | None | None | None | None | N | None | 0 | 2.23624E-05 | None | 0 | 0 | None | 0 | 0 | 8.99735E-07 | 0 | 0 |
| V/L | rs887090503 |
-0.281 | 0.002 | None | 0.065 | 0.196 | 0.312001716656 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.81E-06 | 0 |
| V/L | rs887090503 |
-0.281 | 0.002 | None | 0.065 | 0.196 | 0.312001716656 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs887090503 |
-0.281 | 0.002 | None | 0.065 | 0.196 | 0.312001716656 | gnomAD-4.0.0 | 9.29766E-06 | None | None | None | None | N | None | 1.33454E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18697E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1222 | likely_benign | 0.1305 | benign | -1.005 | Destabilizing | 0.002 | N | 0.079 | neutral | None | None | None | None | N |
| V/C | 0.7099 | likely_pathogenic | 0.7024 | pathogenic | -0.848 | Destabilizing | 0.977 | D | 0.343 | neutral | None | None | None | None | N |
| V/D | 0.3396 | likely_benign | 0.3232 | benign | -0.502 | Destabilizing | 0.92 | D | 0.461 | neutral | None | None | None | None | N |
| V/E | 0.2467 | likely_benign | 0.2378 | benign | -0.53 | Destabilizing | 0.81 | D | 0.415 | neutral | None | None | None | None | N |
| V/F | 0.162 | likely_benign | 0.1427 | benign | -0.796 | Destabilizing | 0.85 | D | 0.351 | neutral | None | None | None | None | N |
| V/G | 0.2026 | likely_benign | 0.1964 | benign | -1.278 | Destabilizing | 0.379 | N | 0.439 | neutral | None | None | None | None | N |
| V/H | 0.4901 | ambiguous | 0.4791 | ambiguous | -0.882 | Destabilizing | 0.992 | D | 0.433 | neutral | None | None | None | None | N |
| V/I | 0.0765 | likely_benign | 0.0773 | benign | -0.385 | Destabilizing | 0.201 | N | 0.382 | neutral | None | None | None | None | N |
| V/K | 0.2573 | likely_benign | 0.2462 | benign | -0.882 | Destabilizing | 0.617 | D | 0.386 | neutral | None | None | None | None | N |
| V/L | 0.1339 | likely_benign | 0.1334 | benign | -0.385 | Destabilizing | 0.002 | N | 0.065 | neutral | None | None | None | None | N |
| V/M | 0.1079 | likely_benign | 0.1024 | benign | -0.396 | Destabilizing | 0.127 | N | 0.27 | neutral | None | None | None | None | N |
| V/N | 0.2571 | likely_benign | 0.2612 | benign | -0.666 | Destabilizing | 0.92 | D | 0.466 | neutral | None | None | None | None | N |
| V/P | 0.7691 | likely_pathogenic | 0.7437 | pathogenic | -0.554 | Destabilizing | 0.92 | D | 0.42 | neutral | None | None | None | None | N |
| V/Q | 0.2484 | likely_benign | 0.2459 | benign | -0.806 | Destabilizing | 0.92 | D | 0.418 | neutral | None | None | None | None | N |
| V/R | 0.2417 | likely_benign | 0.2237 | benign | -0.462 | Destabilizing | 0.85 | D | 0.461 | neutral | None | None | None | None | N |
| V/S | 0.1746 | likely_benign | 0.1884 | benign | -1.181 | Destabilizing | 0.447 | N | 0.399 | neutral | None | None | None | None | N |
| V/T | 0.1386 | likely_benign | 0.1482 | benign | -1.093 | Destabilizing | 0.617 | D | 0.309 | neutral | None | None | None | None | N |
| V/W | 0.8069 | likely_pathogenic | 0.7529 | pathogenic | -0.959 | Destabilizing | 0.992 | D | 0.489 | neutral | None | None | None | None | N |
| V/Y | 0.5278 | ambiguous | 0.4864 | ambiguous | -0.649 | Destabilizing | 0.972 | D | 0.367 | neutral | 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.