Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 135 | 628;629;630 | chr2:178800575;178800574;178800573 | chr2:179665302;179665301;179665300 |
| N2AB | 135 | 628;629;630 | chr2:178800575;178800574;178800573 | chr2:179665302;179665301;179665300 |
| N2A | 135 | 628;629;630 | chr2:178800575;178800574;178800573 | chr2:179665302;179665301;179665300 |
| N2B | 135 | 628;629;630 | chr2:178800575;178800574;178800573 | chr2:179665302;179665301;179665300 |
| Novex-1 | 135 | 628;629;630 | chr2:178800575;178800574;178800573 | chr2:179665302;179665301;179665300 |
| Novex-2 | 135 | 628;629;630 | chr2:178800575;178800574;178800573 | chr2:179665302;179665301;179665300 |
| Novex-3 | 135 | 628;629;630 | chr2:178800575;178800574;178800573 | chr2:179665302;179665301;179665300 |
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/E | rs1332868582  |
None | 1.0 | D | 0.851 | 0.827 | 0.899657565886 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.599(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/E | rs1332868582 |
None | 1.0 | D | 0.851 | 0.827 | 0.899657565886 | gnomAD-4.0.0 | 1.85875E-06 | None | None | None | -0.599(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69488E-06 | 0 | 1.60046E-05 |
| V/M | None | None | 1.0 | D | 0.701 | 0.63 | 0.764807200997 | gnomAD-4.0.0 | 1.59059E-06 | None | None | None | -0.73(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85662E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8841 | likely_pathogenic | 0.9065 | pathogenic | -1.748 | Destabilizing | 0.999 | D | 0.582 | neutral | D | 0.62926143 | None | -0.678(TCAP) | N |
| V/C | 0.9869 | likely_pathogenic | 0.9881 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | -0.451(TCAP) | N |
| V/D | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -2.387 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | -0.509(TCAP) | N |
| V/E | 0.9923 | likely_pathogenic | 0.9933 | pathogenic | -2.17 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.717959027 | None | -0.599(TCAP) | N |
| V/F | 0.869 | likely_pathogenic | 0.9047 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | -0.948(TCAP) | N |
| V/G | 0.9499 | likely_pathogenic | 0.9599 | pathogenic | -2.251 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.717959027 | None | -0.59(TCAP) | N |
| V/H | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -1.994 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | 0.067(TCAP) | N |
| V/I | 0.1453 | likely_benign | 0.1575 | benign | -0.35 | Destabilizing | 0.994 | D | 0.509 | neutral | None | None | None | -0.952(TCAP) | N |
| V/K | 0.9947 | likely_pathogenic | 0.9953 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | -0.503(TCAP) | N |
| V/L | 0.7163 | likely_pathogenic | 0.7637 | pathogenic | -0.35 | Destabilizing | 0.992 | D | 0.595 | neutral | N | 0.493621879 | None | -0.952(TCAP) | N |
| V/M | 0.7759 | likely_pathogenic | 0.8243 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.66762098 | None | -0.73(TCAP) | N |
| V/N | 0.9954 | likely_pathogenic | 0.9962 | pathogenic | -1.708 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | -0.59(TCAP) | N |
| V/P | 0.9838 | likely_pathogenic | 0.9854 | pathogenic | -0.79 | Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | -0.86(TCAP) | N |
| V/Q | 0.9924 | likely_pathogenic | 0.9938 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | -0.621(TCAP) | N |
| V/R | 0.9906 | likely_pathogenic | 0.9915 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | -0.354(TCAP) | N |
| V/S | 0.9782 | likely_pathogenic | 0.9824 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | -0.237(TCAP) | N |
| V/T | 0.9148 | likely_pathogenic | 0.9302 | pathogenic | -1.898 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | -0.355(TCAP) | N |
| V/W | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | -1.175(TCAP) | N |
| V/Y | 0.9927 | likely_pathogenic | 0.9945 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | -0.973(TCAP) | 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.