Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15693 | 47302;47303;47304 | chr2:178618381;178618380;178618379 | chr2:179483108;179483107;179483106 |
| N2AB | 14052 | 42379;42380;42381 | chr2:178618381;178618380;178618379 | chr2:179483108;179483107;179483106 |
| N2A | 13125 | 39598;39599;39600 | chr2:178618381;178618380;178618379 | chr2:179483108;179483107;179483106 |
| N2B | 6628 | 20107;20108;20109 | chr2:178618381;178618380;178618379 | chr2:179483108;179483107;179483106 |
| Novex-1 | 6753 | 20482;20483;20484 | chr2:178618381;178618380;178618379 | chr2:179483108;179483107;179483106 |
| Novex-2 | 6820 | 20683;20684;20685 | chr2:178618381;178618380;178618379 | chr2:179483108;179483107;179483106 |
| 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/F | None | None | 0.993 | N | 0.758 | 0.288 | 0.729033515045 | gnomAD-4.0.0 | 6.84719E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99931E-07 | 0 | 0 |
| V/I | rs201717871  |
-0.765 | 0.213 | N | 0.268 | 0.093 | None | gnomAD-2.1.1 | 7.49093E-04 | None | None | None | None | N | None | 3.72424E-04 | 1.13585E-04 | None | 0 | 4.15498E-04 | None | 7.5188E-04 | None | 0 | 1.26401E-03 | 5.63222E-04 |
| V/I | rs201717871 |
-0.765 | 0.213 | N | 0.268 | 0.093 | None | gnomAD-3.1.2 | 7.04448E-04 | None | None | None | None | N | None | 4.34678E-04 | 1.96954E-04 | 0 | 0 | 1.95084E-04 | None | 0 | 0 | 1.22264E-03 | 4.1425E-04 | 0 |
| V/I | rs201717871 |
-0.765 | 0.213 | N | 0.268 | 0.093 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 1E-03 | None |
| V/I | rs201717871 |
-0.765 | 0.213 | N | 0.268 | 0.093 | None | gnomAD-4.0.0 | 1.67012E-03 | None | None | None | None | N | None | 3.60279E-04 | 1.00224E-04 | None | 3.38341E-05 | 1.34487E-04 | None | 4.68765E-05 | 0 | 2.15932E-03 | 3.95378E-04 | 1.08974E-03 |
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 | 0.44 | ambiguous | 0.4585 | ambiguous | -1.999 | Destabilizing | 0.939 | D | 0.626 | neutral | N | 0.520247273 | None | None | N |
| V/C | 0.8161 | likely_pathogenic | 0.8102 | pathogenic | -2.006 | Highly Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| V/D | 0.8691 | likely_pathogenic | 0.8087 | pathogenic | -2.927 | Highly Destabilizing | 0.997 | D | 0.811 | deleterious | N | 0.513724079 | None | None | N |
| V/E | 0.6834 | likely_pathogenic | 0.6113 | pathogenic | -2.823 | Highly Destabilizing | 0.998 | D | 0.74 | deleterious | None | None | None | None | N |
| V/F | 0.4974 | ambiguous | 0.4132 | ambiguous | -1.335 | Destabilizing | 0.993 | D | 0.758 | deleterious | N | 0.471671976 | None | None | N |
| V/G | 0.6881 | likely_pathogenic | 0.6709 | pathogenic | -2.386 | Highly Destabilizing | 0.997 | D | 0.772 | deleterious | D | 0.569856708 | None | None | N |
| V/H | 0.8647 | likely_pathogenic | 0.8194 | pathogenic | -1.794 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| V/I | 0.0793 | likely_benign | 0.0856 | benign | -0.967 | Destabilizing | 0.213 | N | 0.268 | neutral | N | 0.4525089 | None | None | N |
| V/K | 0.7873 | likely_pathogenic | 0.7055 | pathogenic | -1.658 | Destabilizing | 0.993 | D | 0.752 | deleterious | None | None | None | None | N |
| V/L | 0.3615 | ambiguous | 0.3284 | benign | -0.967 | Destabilizing | 0.889 | D | 0.518 | neutral | N | 0.475906793 | None | None | N |
| V/M | 0.2626 | likely_benign | 0.2874 | benign | -1.171 | Destabilizing | 0.986 | D | 0.752 | deleterious | None | None | None | None | N |
| V/N | 0.6605 | likely_pathogenic | 0.6308 | pathogenic | -1.861 | Destabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | None | N |
| V/P | 0.9938 | likely_pathogenic | 0.9926 | pathogenic | -1.284 | Destabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | N |
| V/Q | 0.6645 | likely_pathogenic | 0.6113 | pathogenic | -1.949 | Destabilizing | 0.998 | D | 0.786 | deleterious | None | None | None | None | N |
| V/R | 0.7359 | likely_pathogenic | 0.6247 | pathogenic | -1.217 | Destabilizing | 0.998 | D | 0.812 | deleterious | None | None | None | None | N |
| V/S | 0.5051 | ambiguous | 0.5205 | ambiguous | -2.371 | Highly Destabilizing | 0.993 | D | 0.747 | deleterious | None | None | None | None | N |
| V/T | 0.2557 | likely_benign | 0.2926 | benign | -2.156 | Highly Destabilizing | 0.953 | D | 0.704 | prob.neutral | None | None | None | None | N |
| V/W | 0.9609 | likely_pathogenic | 0.9412 | pathogenic | -1.644 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| V/Y | 0.8503 | likely_pathogenic | 0.7957 | pathogenic | -1.347 | Destabilizing | 0.998 | D | 0.783 | 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.