Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24258 | 72997;72998;72999 | chr2:178573360;178573359;178573358 | chr2:179438087;179438086;179438085 |
| N2AB | 22617 | 68074;68075;68076 | chr2:178573360;178573359;178573358 | chr2:179438087;179438086;179438085 |
| N2A | 21690 | 65293;65294;65295 | chr2:178573360;178573359;178573358 | chr2:179438087;179438086;179438085 |
| N2B | 15193 | 45802;45803;45804 | chr2:178573360;178573359;178573358 | chr2:179438087;179438086;179438085 |
| Novex-1 | 15318 | 46177;46178;46179 | chr2:178573360;178573359;178573358 | chr2:179438087;179438086;179438085 |
| Novex-2 | 15385 | 46378;46379;46380 | chr2:178573360;178573359;178573358 | chr2:179438087;179438086;179438085 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | 0.82 | D | 0.757 | 0.196 | 0.590550950836 | gnomAD-4.0.0 | 7.26417E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.40738E-05 | 0 |
| I/T | rs773657520  |
-3.04 | 0.722 | N | 0.743 | 0.223 | 0.674618586957 | gnomAD-2.1.1 | 5.45E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.13E-05 | 0 |
| I/T | rs773657520 |
-3.04 | 0.722 | N | 0.743 | 0.223 | 0.674618586957 | gnomAD-4.0.0 | 3.67939E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.46793E-06 | 0 | 0 |
| I/V | rs763561377 |
-1.887 | 0.003 | N | 0.218 | 0.041 | 0.357724736475 | gnomAD-2.1.1 | 9.31E-06 | None | None | None | None | N | None | 4.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.64E-06 | 0 |
| I/V | rs763561377 |
-1.887 | 0.003 | N | 0.218 | 0.041 | 0.357724736475 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs763561377 |
-1.887 | 0.003 | N | 0.218 | 0.041 | 0.357724736475 | gnomAD-4.0.0 | 6.54155E-06 | None | None | None | None | N | None | 1.38677E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.02346E-06 | 0 | 1.7012E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3409 | ambiguous | 0.3016 | benign | -2.569 | Highly Destabilizing | 0.633 | D | 0.727 | prob.delet. | None | None | None | None | N |
| I/C | 0.6238 | likely_pathogenic | 0.6419 | pathogenic | -1.652 | Destabilizing | 0.989 | D | 0.728 | prob.delet. | None | None | None | None | N |
| I/D | 0.8547 | likely_pathogenic | 0.8527 | pathogenic | -2.98 | Highly Destabilizing | 0.987 | D | 0.783 | deleterious | None | None | None | None | N |
| I/E | 0.755 | likely_pathogenic | 0.7414 | pathogenic | -2.844 | Highly Destabilizing | 0.961 | D | 0.772 | deleterious | None | None | None | None | N |
| I/F | 0.1558 | likely_benign | 0.1515 | benign | -1.681 | Destabilizing | 0.82 | D | 0.757 | deleterious | D | 0.522481899 | None | None | N |
| I/G | 0.7934 | likely_pathogenic | 0.757 | pathogenic | -3.018 | Highly Destabilizing | 0.961 | D | 0.764 | deleterious | None | None | None | None | N |
| I/H | 0.4122 | ambiguous | 0.4286 | ambiguous | -2.41 | Highly Destabilizing | 0.979 | D | 0.778 | deleterious | None | None | None | None | N |
| I/K | 0.536 | ambiguous | 0.5153 | ambiguous | -2.118 | Highly Destabilizing | 0.961 | D | 0.772 | deleterious | None | None | None | None | N |
| I/L | 0.1457 | likely_benign | 0.1376 | benign | -1.3 | Destabilizing | 0.19 | N | 0.483 | neutral | N | 0.493332428 | None | None | N |
| I/M | 0.1173 | likely_benign | 0.1094 | benign | -0.985 | Destabilizing | 0.901 | D | 0.768 | deleterious | N | 0.499183504 | None | None | N |
| I/N | 0.34 | ambiguous | 0.3449 | ambiguous | -2.246 | Highly Destabilizing | 0.949 | D | 0.792 | deleterious | N | 0.483317293 | None | None | N |
| I/P | 0.9824 | likely_pathogenic | 0.9762 | pathogenic | -1.702 | Destabilizing | 0.987 | D | 0.792 | deleterious | None | None | None | None | N |
| I/Q | 0.5329 | ambiguous | 0.5174 | ambiguous | -2.27 | Highly Destabilizing | 0.961 | D | 0.8 | deleterious | None | None | None | None | N |
| I/R | 0.381 | ambiguous | 0.3535 | ambiguous | -1.541 | Destabilizing | 0.961 | D | 0.797 | deleterious | None | None | None | None | N |
| I/S | 0.3107 | likely_benign | 0.2984 | benign | -2.834 | Highly Destabilizing | 0.901 | D | 0.727 | prob.delet. | N | 0.484024855 | None | None | N |
| I/T | 0.1447 | likely_benign | 0.1304 | benign | -2.585 | Highly Destabilizing | 0.722 | D | 0.743 | deleterious | N | 0.511032755 | None | None | N |
| I/V | 0.0677 | likely_benign | 0.066 | benign | -1.702 | Destabilizing | 0.003 | N | 0.218 | neutral | N | 0.481288638 | None | None | N |
| I/W | 0.718 | likely_pathogenic | 0.7238 | pathogenic | -2.064 | Highly Destabilizing | 0.989 | D | 0.771 | deleterious | None | None | None | None | N |
| I/Y | 0.4417 | ambiguous | 0.4782 | ambiguous | -1.82 | Destabilizing | 0.024 | N | 0.611 | neutral | 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.