Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29611 | 89056;89057;89058 | chr2:178554516;178554515;178554514 | chr2:179419243;179419242;179419241 |
| N2AB | 27970 | 84133;84134;84135 | chr2:178554516;178554515;178554514 | chr2:179419243;179419242;179419241 |
| N2A | 27043 | 81352;81353;81354 | chr2:178554516;178554515;178554514 | chr2:179419243;179419242;179419241 |
| N2B | 20546 | 61861;61862;61863 | chr2:178554516;178554515;178554514 | chr2:179419243;179419242;179419241 |
| Novex-1 | 20671 | 62236;62237;62238 | chr2:178554516;178554515;178554514 | chr2:179419243;179419242;179419241 |
| Novex-2 | 20738 | 62437;62438;62439 | chr2:178554516;178554515;178554514 | chr2:179419243;179419242;179419241 |
| 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/L | rs79299277  |
-0.691 | 0.999 | N | 0.526 | 0.391 | 0.617224619168 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs79299277 |
-0.691 | 0.999 | N | 0.526 | 0.391 | 0.617224619168 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs79299277 |
-0.691 | 0.999 | N | 0.526 | 0.391 | 0.617224619168 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/L | rs79299277 |
-0.691 | 0.999 | N | 0.526 | 0.391 | 0.617224619168 | gnomAD-4.0.0 | 6.19849E-06 | None | None | None | None | N | None | 1.33319E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs79299277 |
-0.836 | 1.0 | N | 0.654 | 0.415 | 0.638307893888 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 1.29769E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/M | rs79299277 |
-0.836 | 1.0 | N | 0.654 | 0.415 | 0.638307893888 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20744E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs79299277 |
-0.836 | 1.0 | N | 0.654 | 0.415 | 0.638307893888 | gnomAD-4.0.0 | 2.78953E-05 | None | None | None | None | N | None | 8.01218E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7126E-05 | 1.09861E-05 | 9.61169E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3361 | likely_benign | 0.3712 | ambiguous | -1.993 | Destabilizing | 0.999 | D | 0.551 | neutral | D | 0.526837287 | None | None | N |
| V/C | 0.8124 | likely_pathogenic | 0.8253 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/D | 0.9509 | likely_pathogenic | 0.9496 | pathogenic | -2.971 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| V/E | 0.6281 | likely_pathogenic | 0.6249 | pathogenic | -2.798 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.476717898 | None | None | N |
| V/F | 0.5745 | likely_pathogenic | 0.5941 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/G | 0.6752 | likely_pathogenic | 0.6992 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.508993916 | None | None | N |
| V/H | 0.9209 | likely_pathogenic | 0.9281 | pathogenic | -2.248 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/I | 0.1249 | likely_benign | 0.1236 | benign | -0.715 | Destabilizing | 0.998 | D | 0.513 | neutral | None | None | None | None | N |
| V/K | 0.691 | likely_pathogenic | 0.7024 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/L | 0.6566 | likely_pathogenic | 0.6577 | pathogenic | -0.715 | Destabilizing | 0.999 | D | 0.526 | neutral | N | 0.491860258 | None | None | N |
| V/M | 0.301 | likely_benign | 0.3033 | benign | -0.824 | Destabilizing | 1.0 | D | 0.654 | neutral | N | 0.499523715 | None | None | N |
| V/N | 0.8643 | likely_pathogenic | 0.8597 | pathogenic | -1.908 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/P | 0.9939 | likely_pathogenic | 0.9954 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/Q | 0.5368 | ambiguous | 0.5534 | ambiguous | -1.82 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/R | 0.6376 | likely_pathogenic | 0.666 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| V/S | 0.5787 | likely_pathogenic | 0.5905 | pathogenic | -2.405 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/T | 0.4829 | ambiguous | 0.4873 | ambiguous | -2.115 | Highly Destabilizing | 0.999 | D | 0.564 | neutral | None | None | None | None | N |
| V/W | 0.9822 | likely_pathogenic | 0.9868 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/Y | 0.9042 | likely_pathogenic | 0.9153 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.841 | deleterious | 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.