Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30482 | 91669;91670;91671 | chr2:178551087;178551086;178551085 | chr2:179415814;179415813;179415812 |
| N2AB | 28841 | 86746;86747;86748 | chr2:178551087;178551086;178551085 | chr2:179415814;179415813;179415812 |
| N2A | 27914 | 83965;83966;83967 | chr2:178551087;178551086;178551085 | chr2:179415814;179415813;179415812 |
| N2B | 21417 | 64474;64475;64476 | chr2:178551087;178551086;178551085 | chr2:179415814;179415813;179415812 |
| Novex-1 | 21542 | 64849;64850;64851 | chr2:178551087;178551086;178551085 | chr2:179415814;179415813;179415812 |
| Novex-2 | 21609 | 65050;65051;65052 | chr2:178551087;178551086;178551085 | chr2:179415814;179415813;179415812 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.999 | N | 0.555 | 0.566 | 0.3691244813 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| T/K | rs1219629332  |
-0.371 | 1.0 | N | 0.835 | 0.46 | 0.45882554386 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.42674E-04 | None | 0 | None | 0 | 0 | 0 |
| T/K | rs1219629332 |
-0.371 | 1.0 | N | 0.835 | 0.46 | 0.45882554386 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs1219629332 |
-0.371 | 1.0 | N | 0.835 | 0.46 | 0.45882554386 | gnomAD-4.0.0 | 6.57315E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1276 | likely_benign | 0.1484 | benign | -0.785 | Destabilizing | 0.999 | D | 0.555 | neutral | N | 0.489733891 | None | None | N |
| T/C | 0.5222 | ambiguous | 0.582 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| T/D | 0.6709 | likely_pathogenic | 0.7375 | pathogenic | 0.103 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| T/E | 0.4367 | ambiguous | 0.5164 | ambiguous | 0.104 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| T/F | 0.493 | ambiguous | 0.5765 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| T/G | 0.4791 | ambiguous | 0.5585 | ambiguous | -1.038 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/H | 0.4208 | ambiguous | 0.4807 | ambiguous | -1.283 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| T/I | 0.1909 | likely_benign | 0.2214 | benign | -0.206 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.492024843 | None | None | N |
| T/K | 0.3309 | likely_benign | 0.3883 | ambiguous | -0.595 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.521063321 | None | None | N |
| T/L | 0.157 | likely_benign | 0.1879 | benign | -0.206 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/M | 0.1118 | likely_benign | 0.1227 | benign | 0.005 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/N | 0.2423 | likely_benign | 0.2821 | benign | -0.529 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| T/P | 0.3518 | ambiguous | 0.4034 | ambiguous | -0.367 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.483835316 | None | None | N |
| T/Q | 0.3004 | likely_benign | 0.3446 | ambiguous | -0.655 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| T/R | 0.2912 | likely_benign | 0.3574 | ambiguous | -0.405 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.472617141 | None | None | N |
| T/S | 0.1838 | likely_benign | 0.2114 | benign | -0.847 | Destabilizing | 0.999 | D | 0.533 | neutral | N | 0.484124804 | None | None | N |
| T/V | 0.1303 | likely_benign | 0.1443 | benign | -0.367 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| T/W | 0.8466 | likely_pathogenic | 0.8858 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| T/Y | 0.5617 | ambiguous | 0.6368 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.867 | 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.