Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9926 | 30001;30002;30003 | chr2:178704696;178704695;178704694 | chr2:179569423;179569422;179569421 |
| N2AB | 9609 | 29050;29051;29052 | chr2:178704696;178704695;178704694 | chr2:179569423;179569422;179569421 |
| N2A | 8682 | 26269;26270;26271 | chr2:178704696;178704695;178704694 | chr2:179569423;179569422;179569421 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.999 | None | 0.71 | 0.396 | 0.137902524267 | gnomAD-4.0.0 | 1.59676E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86402E-06 | 0 | 0 |
| N/I | rs377147236  |
0.126 | 1.0 | None | 0.776 | 0.569 | 0.485705203746 | gnomAD-2.1.1 | 1.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.71E-05 | 0 |
| N/I | rs377147236 |
0.126 | 1.0 | None | 0.776 | 0.569 | 0.485705203746 | gnomAD-4.0.0 | 3.70044E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.68039E-05 | 0 | 3.31719E-05 |
| N/T | rs377147236 |
-0.552 | 0.999 | None | 0.742 | 0.503 | None | gnomAD-2.1.1 | 8.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.81E-05 | 0 |
| N/T | rs377147236 |
-0.552 | 0.999 | None | 0.742 | 0.503 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/T | rs377147236 |
-0.552 | 0.999 | None | 0.742 | 0.503 | None | gnomAD-4.0.0 | 6.82592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32953E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.8309 | likely_pathogenic | 0.8157 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| N/C | 0.8552 | likely_pathogenic | 0.8673 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| N/D | 0.845 | likely_pathogenic | 0.8099 | pathogenic | 0.318 | Stabilizing | 0.999 | D | 0.71 | prob.delet. | None | None | None | None | N |
| N/E | 0.9683 | likely_pathogenic | 0.9574 | pathogenic | 0.345 | Stabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| N/F | 0.9624 | likely_pathogenic | 0.9544 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| N/G | 0.9051 | likely_pathogenic | 0.891 | pathogenic | -0.551 | Destabilizing | 0.999 | D | 0.668 | neutral | None | None | None | None | N |
| N/H | 0.5956 | likely_pathogenic | 0.5493 | ambiguous | -0.406 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| N/I | 0.7688 | likely_pathogenic | 0.7434 | pathogenic | 0.166 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| N/K | 0.9626 | likely_pathogenic | 0.9425 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/L | 0.7359 | likely_pathogenic | 0.7032 | pathogenic | 0.166 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| N/M | 0.9198 | likely_pathogenic | 0.9036 | pathogenic | 0.133 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/P | 0.9496 | likely_pathogenic | 0.9433 | pathogenic | 0.027 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| N/Q | 0.9284 | likely_pathogenic | 0.9104 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| N/R | 0.9211 | likely_pathogenic | 0.8927 | pathogenic | 0.118 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| N/S | 0.3179 | likely_benign | 0.2951 | benign | -0.271 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| N/T | 0.633 | likely_pathogenic | 0.5943 | pathogenic | -0.077 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| N/V | 0.7923 | likely_pathogenic | 0.7896 | pathogenic | 0.027 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| N/W | 0.9889 | likely_pathogenic | 0.9858 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/Y | 0.757 | likely_pathogenic | 0.7254 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.763 | 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.