Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6388 | 19387;19388;19389 | chr2:178728764;178728763;178728762 | chr2:179593491;179593490;179593489 |
| N2AB | 6071 | 18436;18437;18438 | chr2:178728764;178728763;178728762 | chr2:179593491;179593490;179593489 |
| N2A | 5144 | 15655;15656;15657 | chr2:178728764;178728763;178728762 | chr2:179593491;179593490;179593489 |
| 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 | rs550617268  |
-0.233 | None | N | 0.079 | 0.03 | 0.154104182512 | gnomAD-2.1.1 | 4.69E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.5402E-04 | None | 3.36E-05 | None | 0 | 6.3E-05 | 1.42126E-04 |
| V/I | rs550617268 |
-0.233 | None | N | 0.079 | 0.03 | 0.154104182512 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 3.861E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs550617268 |
-0.233 | None | N | 0.079 | 0.03 | 0.154104182512 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/I | rs550617268 |
-0.233 | None | N | 0.079 | 0.03 | 0.154104182512 | gnomAD-4.0.0 | 4.18776E-05 | None | None | None | None | N | None | 1.33822E-05 | 5.03592E-05 | None | 0 | 1.1239E-04 | None | 0 | 0 | 4.4486E-05 | 0 | 9.70434E-05 |
| V/L | None | None | None | N | 0.076 | 0.043 | 0.136095386433 | gnomAD-4.0.0 | 6.90765E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.08349E-07 | 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 | 0.1547 | likely_benign | 0.1346 | benign | -1.019 | Destabilizing | 0.024 | N | 0.201 | neutral | N | 0.514526059 | None | None | N |
| V/C | 0.6741 | likely_pathogenic | 0.6585 | pathogenic | -0.793 | Destabilizing | 0.628 | D | 0.33 | neutral | None | None | None | None | N |
| V/D | 0.4411 | ambiguous | 0.3895 | ambiguous | -0.968 | Destabilizing | 0.356 | N | 0.401 | neutral | None | None | None | None | N |
| V/E | 0.2438 | likely_benign | 0.2235 | benign | -1.039 | Destabilizing | 0.106 | N | 0.373 | neutral | N | 0.512275187 | None | None | N |
| V/F | 0.1401 | likely_benign | 0.1219 | benign | -0.924 | Destabilizing | 0.038 | N | 0.417 | neutral | None | None | None | None | N |
| V/G | 0.2891 | likely_benign | 0.2821 | benign | -1.23 | Destabilizing | 0.106 | N | 0.389 | neutral | N | 0.474431933 | None | None | N |
| V/H | 0.4042 | ambiguous | 0.3271 | benign | -0.689 | Destabilizing | 0.864 | D | 0.319 | neutral | None | None | None | None | N |
| V/I | 0.0538 | likely_benign | 0.054 | benign | -0.581 | Destabilizing | None | N | 0.079 | neutral | N | 0.423826697 | None | None | N |
| V/K | 0.1967 | likely_benign | 0.1618 | benign | -1.028 | Destabilizing | 0.136 | N | 0.364 | neutral | None | None | None | None | N |
| V/L | 0.0785 | likely_benign | 0.0775 | benign | -0.581 | Destabilizing | None | N | 0.076 | neutral | N | 0.434793052 | None | None | N |
| V/M | 0.0924 | likely_benign | 0.0809 | benign | -0.491 | Destabilizing | 0.12 | N | 0.356 | neutral | None | None | None | None | N |
| V/N | 0.2792 | likely_benign | 0.2115 | benign | -0.799 | Destabilizing | 0.356 | N | 0.387 | neutral | None | None | None | None | N |
| V/P | 0.6725 | likely_pathogenic | 0.6919 | pathogenic | -0.692 | Destabilizing | 0.628 | D | 0.376 | neutral | None | None | None | None | N |
| V/Q | 0.2198 | likely_benign | 0.184 | benign | -1.043 | Destabilizing | 0.628 | D | 0.35 | neutral | None | None | None | None | N |
| V/R | 0.1513 | likely_benign | 0.1296 | benign | -0.385 | Destabilizing | 0.356 | N | 0.392 | neutral | None | None | None | None | N |
| V/S | 0.2055 | likely_benign | 0.1698 | benign | -1.176 | Destabilizing | 0.038 | N | 0.297 | neutral | None | None | None | None | N |
| V/T | 0.0966 | likely_benign | 0.0785 | benign | -1.153 | Destabilizing | None | N | 0.09 | neutral | None | None | None | None | N |
| V/W | 0.5672 | likely_pathogenic | 0.5402 | ambiguous | -1.033 | Destabilizing | 0.864 | D | 0.345 | neutral | None | None | None | None | N |
| V/Y | 0.4422 | ambiguous | 0.3862 | ambiguous | -0.776 | Destabilizing | 0.356 | N | 0.409 | 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.