Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35146 | 105661;105662;105663 | chr2:178531179;178531178;178531177 | chr2:179395906;179395905;179395904 |
| N2AB | 33505 | 100738;100739;100740 | chr2:178531179;178531178;178531177 | chr2:179395906;179395905;179395904 |
| N2A | 32578 | 97957;97958;97959 | chr2:178531179;178531178;178531177 | chr2:179395906;179395905;179395904 |
| N2B | 26081 | 78466;78467;78468 | chr2:178531179;178531178;178531177 | chr2:179395906;179395905;179395904 |
| Novex-1 | 26206 | 78841;78842;78843 | chr2:178531179;178531178;178531177 | chr2:179395906;179395905;179395904 |
| Novex-2 | 26273 | 79042;79043;79044 | chr2:178531179;178531178;178531177 | chr2:179395906;179395905;179395904 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs746800387  |
0.218 | 1.0 | N | 0.819 | 0.532 | 0.31077124679 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs746800387 |
0.218 | 1.0 | N | 0.819 | 0.532 | 0.31077124679 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs746800387 |
0.218 | 1.0 | N | 0.819 | 0.532 | 0.31077124679 | gnomAD-4.0.0 | 6.56978E-06 | None | None | None | None | N | None | 2.41196E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs746800387 |
-0.932 | 0.992 | N | 0.595 | 0.299 | 0.207176502487 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs746800387 |
-0.932 | 0.992 | N | 0.595 | 0.299 | 0.207176502487 | gnomAD-4.0.0 | 1.59087E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77239E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6737 | likely_pathogenic | 0.658 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/D | 0.9791 | likely_pathogenic | 0.9889 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/E | 0.9453 | likely_pathogenic | 0.9666 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.499577307 | None | None | N |
| A/F | 0.714 | likely_pathogenic | 0.7973 | pathogenic | -0.54 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| A/G | 0.4088 | ambiguous | 0.4644 | ambiguous | -1.298 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.458342368 | None | None | N |
| A/H | 0.9653 | likely_pathogenic | 0.9764 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/I | 0.3348 | likely_benign | 0.4199 | ambiguous | 0.459 | Stabilizing | 0.988 | D | 0.683 | prob.neutral | None | None | None | None | N |
| A/K | 0.9733 | likely_pathogenic | 0.9829 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/L | 0.3373 | likely_benign | 0.382 | ambiguous | 0.459 | Stabilizing | 0.988 | D | 0.586 | neutral | None | None | None | None | N |
| A/M | 0.4859 | ambiguous | 0.5723 | pathogenic | 0.152 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/N | 0.945 | likely_pathogenic | 0.9662 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/P | 0.9361 | likely_pathogenic | 0.9576 | pathogenic | 0.081 | Stabilizing | 1.0 | D | 0.819 | deleterious | N | 0.499577307 | None | None | N |
| A/Q | 0.9183 | likely_pathogenic | 0.9395 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/R | 0.9356 | likely_pathogenic | 0.9502 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/S | 0.3038 | likely_benign | 0.3519 | ambiguous | -1.614 | Destabilizing | 0.996 | D | 0.59 | neutral | N | 0.487802928 | None | None | N |
| A/T | 0.2266 | likely_benign | 0.2848 | benign | -1.265 | Destabilizing | 0.992 | D | 0.595 | neutral | N | 0.501540906 | None | None | N |
| A/V | 0.135 | likely_benign | 0.1644 | benign | 0.081 | Stabilizing | 0.619 | D | 0.285 | neutral | N | 0.403699354 | None | None | N |
| A/W | 0.9768 | likely_pathogenic | 0.9844 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/Y | 0.9247 | likely_pathogenic | 0.9494 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.845 | 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.