Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19681 | 59266;59267;59268 | chr2:178593078;178593077;178593076 | chr2:179457805;179457804;179457803 |
| N2AB | 18040 | 54343;54344;54345 | chr2:178593078;178593077;178593076 | chr2:179457805;179457804;179457803 |
| N2A | 17113 | 51562;51563;51564 | chr2:178593078;178593077;178593076 | chr2:179457805;179457804;179457803 |
| N2B | 10616 | 32071;32072;32073 | chr2:178593078;178593077;178593076 | chr2:179457805;179457804;179457803 |
| Novex-1 | 10741 | 32446;32447;32448 | chr2:178593078;178593077;178593076 | chr2:179457805;179457804;179457803 |
| Novex-2 | 10808 | 32647;32648;32649 | chr2:178593078;178593077;178593076 | chr2:179457805;179457804;179457803 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs776257317  |
-0.502 | 1.0 | D | 0.828 | 0.473 | 0.714395630354 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.34E-05 | None | 0 | 0 | 0 |
| P/L | rs776257317 |
-0.502 | 1.0 | D | 0.828 | 0.473 | 0.714395630354 | gnomAD-4.0.0 | 1.59714E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44642E-05 | 0 |
| P/Q | rs776257317 |
None | 1.0 | D | 0.861 | 0.505 | 0.589101784295 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | rs776257317 |
None | 1.0 | D | 0.861 | 0.505 | 0.589101784295 | gnomAD-4.0.0 | 2.57042E-06 | None | None | None | None | N | None | 3.39916E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8466 | likely_pathogenic | 0.8713 | pathogenic | -1.528 | Destabilizing | 0.999 | D | 0.802 | deleterious | D | 0.530073912 | None | None | N |
| P/C | 0.9893 | likely_pathogenic | 0.9904 | pathogenic | -2.149 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/D | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -3.399 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/E | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -3.323 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/G | 0.9901 | likely_pathogenic | 0.9901 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/H | 0.9979 | likely_pathogenic | 0.9973 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/I | 0.9876 | likely_pathogenic | 0.9866 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/L | 0.9655 | likely_pathogenic | 0.9584 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.52584395 | None | None | N |
| P/M | 0.9948 | likely_pathogenic | 0.9942 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/N | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| P/Q | 0.9969 | likely_pathogenic | 0.9965 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.557332427 | None | None | N |
| P/R | 0.996 | likely_pathogenic | 0.9952 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.545722632 | None | None | N |
| P/S | 0.9874 | likely_pathogenic | 0.9869 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.530327402 | None | None | N |
| P/T | 0.9798 | likely_pathogenic | 0.979 | pathogenic | -2.072 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.545215653 | None | None | N |
| P/V | 0.9613 | likely_pathogenic | 0.9599 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.852 | 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.