Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1876 | 5851;5852;5853 | chr2:178776238;178776237;178776236 | chr2:179640965;179640964;179640963 |
| N2AB | 1876 | 5851;5852;5853 | chr2:178776238;178776237;178776236 | chr2:179640965;179640964;179640963 |
| N2A | 1876 | 5851;5852;5853 | chr2:178776238;178776237;178776236 | chr2:179640965;179640964;179640963 |
| N2B | 1830 | 5713;5714;5715 | chr2:178776238;178776237;178776236 | chr2:179640965;179640964;179640963 |
| Novex-1 | 1830 | 5713;5714;5715 | chr2:178776238;178776237;178776236 | chr2:179640965;179640964;179640963 |
| Novex-2 | 1830 | 5713;5714;5715 | chr2:178776238;178776237;178776236 | chr2:179640965;179640964;179640963 |
| Novex-3 | 1876 | 5851;5852;5853 | chr2:178776238;178776237;178776236 | chr2:179640965;179640964;179640963 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1419821413  |
None | 1.0 | N | 0.743 | 0.379 | 0.335910606209 | gnomAD-4.0.0 | 6.84073E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99303E-07 | 0 | 0 |
| L/H | rs771632040 |
-1.945 | 1.0 | N | 0.834 | 0.544 | 0.657455092868 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 0 | 0 |
| L/H | rs771632040 |
-1.945 | 1.0 | N | 0.834 | 0.544 | 0.657455092868 | gnomAD-4.0.0 | 2.73628E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47794E-05 | 1.65579E-05 |
| L/V | rs1419821413 |
-1.047 | 0.999 | N | 0.515 | 0.291 | 0.324161360171 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 1.23062E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs1419821413 |
-1.047 | 0.999 | N | 0.515 | 0.291 | 0.324161360171 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs1419821413 |
-1.047 | 0.999 | N | 0.515 | 0.291 | 0.324161360171 | gnomAD-4.0.0 | 3.09784E-06 | None | None | None | None | N | None | 6.67432E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9584 | likely_pathogenic | 0.9637 | pathogenic | -2.703 | Highly Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| L/C | 0.9354 | likely_pathogenic | 0.9438 | pathogenic | -2.345 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| L/D | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| L/E | 0.9906 | likely_pathogenic | 0.9911 | pathogenic | -2.154 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| L/F | 0.6373 | likely_pathogenic | 0.6554 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.424435735 | None | None | N |
| L/G | 0.9948 | likely_pathogenic | 0.9954 | pathogenic | -3.23 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| L/H | 0.9355 | likely_pathogenic | 0.9468 | pathogenic | -2.434 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | N | 0.424029656 | None | None | N |
| L/I | 0.2052 | likely_benign | 0.215 | benign | -1.207 | Destabilizing | 0.999 | D | 0.543 | neutral | N | 0.423927887 | None | None | N |
| L/K | 0.9529 | likely_pathogenic | 0.9624 | pathogenic | -2.139 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| L/M | 0.31 | likely_benign | 0.318 | benign | -1.229 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| L/N | 0.9897 | likely_pathogenic | 0.991 | pathogenic | -2.324 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| L/P | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.541922978 | None | None | N |
| L/Q | 0.9038 | likely_pathogenic | 0.9201 | pathogenic | -2.26 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| L/R | 0.9199 | likely_pathogenic | 0.9342 | pathogenic | -1.715 | Destabilizing | 1.0 | D | 0.868 | deleterious | N | 0.417765237 | None | None | N |
| L/S | 0.9866 | likely_pathogenic | 0.9878 | pathogenic | -3.168 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| L/T | 0.9619 | likely_pathogenic | 0.9683 | pathogenic | -2.829 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| L/V | 0.321 | likely_benign | 0.3477 | ambiguous | -1.682 | Destabilizing | 0.999 | D | 0.515 | neutral | N | 0.416783875 | None | None | N |
| L/W | 0.9021 | likely_pathogenic | 0.9111 | pathogenic | -1.906 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| L/Y | 0.9266 | likely_pathogenic | 0.9323 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.853 | 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.