Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25495 | 76708;76709;76710 | chr2:178569649;178569648;178569647 | chr2:179434376;179434375;179434374 |
| N2AB | 23854 | 71785;71786;71787 | chr2:178569649;178569648;178569647 | chr2:179434376;179434375;179434374 |
| N2A | 22927 | 69004;69005;69006 | chr2:178569649;178569648;178569647 | chr2:179434376;179434375;179434374 |
| N2B | 16430 | 49513;49514;49515 | chr2:178569649;178569648;178569647 | chr2:179434376;179434375;179434374 |
| Novex-1 | 16555 | 49888;49889;49890 | chr2:178569649;178569648;178569647 | chr2:179434376;179434375;179434374 |
| Novex-2 | 16622 | 50089;50090;50091 | chr2:178569649;178569648;178569647 | chr2:179434376;179434375;179434374 |
| 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/I | rs773127796  |
-0.596 | 0.003 | N | 0.169 | 0.052 | 0.400899426204 | gnomAD-2.1.1 | 1.62802E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.21855E-03 | None | 0 | 6.35E-05 | 0 |
| V/I | rs773127796 |
-0.596 | 0.003 | N | 0.169 | 0.052 | 0.400899426204 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 1.0352E-03 | 0 |
| V/I | rs773127796 |
-0.596 | 0.003 | N | 0.169 | 0.052 | 0.400899426204 | gnomAD-4.0.0 | 8.56074E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88358E-05 | 1.11089E-03 | 4.8097E-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 | 0.5618 | ambiguous | 0.5705 | pathogenic | -1.733 | Destabilizing | 0.163 | N | 0.731 | deleterious | N | 0.51031597 | None | None | N |
| V/C | 0.8087 | likely_pathogenic | 0.8202 | pathogenic | -1.266 | Destabilizing | 0.981 | D | 0.722 | deleterious | None | None | None | None | N |
| V/D | 0.9417 | likely_pathogenic | 0.9505 | pathogenic | -1.848 | Destabilizing | 0.771 | D | 0.842 | deleterious | N | 0.509926331 | None | None | N |
| V/E | 0.9189 | likely_pathogenic | 0.9266 | pathogenic | -1.728 | Destabilizing | 0.931 | D | 0.758 | deleterious | None | None | None | None | N |
| V/F | 0.333 | likely_benign | 0.3639 | ambiguous | -1.066 | Destabilizing | 0.808 | D | 0.803 | deleterious | D | 0.529595164 | None | None | N |
| V/G | 0.7485 | likely_pathogenic | 0.7312 | pathogenic | -2.187 | Highly Destabilizing | 0.771 | D | 0.829 | deleterious | N | 0.509672842 | None | None | N |
| V/H | 0.9462 | likely_pathogenic | 0.9548 | pathogenic | -1.853 | Destabilizing | 0.981 | D | 0.828 | deleterious | None | None | None | None | N |
| V/I | 0.0659 | likely_benign | 0.0734 | benign | -0.527 | Destabilizing | 0.003 | N | 0.169 | neutral | N | 0.485782885 | None | None | N |
| V/K | 0.9321 | likely_pathogenic | 0.9411 | pathogenic | -1.548 | Destabilizing | 0.817 | D | 0.759 | deleterious | None | None | None | None | N |
| V/L | 0.2083 | likely_benign | 0.2489 | benign | -0.527 | Destabilizing | 0.002 | N | 0.253 | neutral | N | 0.469159994 | None | None | N |
| V/M | 0.24 | likely_benign | 0.2523 | benign | -0.478 | Destabilizing | 0.687 | D | 0.727 | deleterious | None | None | None | None | N |
| V/N | 0.8171 | likely_pathogenic | 0.8572 | pathogenic | -1.574 | Destabilizing | 0.931 | D | 0.837 | deleterious | None | None | None | None | N |
| V/P | 0.9077 | likely_pathogenic | 0.9277 | pathogenic | -0.896 | Destabilizing | 0.931 | D | 0.758 | deleterious | None | None | None | None | N |
| V/Q | 0.9078 | likely_pathogenic | 0.919 | pathogenic | -1.558 | Destabilizing | 0.931 | D | 0.765 | deleterious | None | None | None | None | N |
| V/R | 0.9149 | likely_pathogenic | 0.9256 | pathogenic | -1.225 | Destabilizing | 0.817 | D | 0.835 | deleterious | None | None | None | None | N |
| V/S | 0.709 | likely_pathogenic | 0.7144 | pathogenic | -2.175 | Highly Destabilizing | 0.817 | D | 0.763 | deleterious | None | None | None | None | N |
| V/T | 0.5503 | ambiguous | 0.5552 | ambiguous | -1.921 | Destabilizing | 0.385 | N | 0.759 | deleterious | None | None | None | None | N |
| V/W | 0.9572 | likely_pathogenic | 0.962 | pathogenic | -1.448 | Destabilizing | 0.981 | D | 0.824 | deleterious | None | None | None | None | N |
| V/Y | 0.8433 | likely_pathogenic | 0.8686 | pathogenic | -1.087 | Destabilizing | 0.817 | D | 0.753 | 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.